nach oben

Erschienen in:

31.03.2017 | Review

Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review

verfasst von: José Berciano, Antonio García, Elena Gallardo, Kristien Peeters, Ana L. Pelayo-Negro, Silvia Álvarez-Paradelo, José Gazulla, Miriam Martínez-Tames, Jon Infante, Albena Jordanova

Erschienen in: Journal of Neurology | Ausgabe 8/2017

Einloggen, um Zugang zu erhalten

Abstract

Charcot–Marie–Tooth disease (CMT) is the most frequent form of inherited neuropathy with great variety of phenotypes, inheritance patterns, and causative genes. According to median motor nerve conduction velocity (MNCV), CMT is divided into demyelinating (CMT1) with MNCV below 38 m/s, axonal (CMT2) with MNCV above 38 m/s, and intermediate CMT with MNCV between 25 and 45 m/s. In each category, transmission may be autosomal dominant, autosomal recessive, or X-linked. The nosology of intermediate CMT is controversial because of concerns about electrophysiological delimitation. A systematic computer-based literature search was conducted on PubMed, using the following MeSH: (1) intermediate Charcot–Marie–Tooth; (2) X-linked intermediate Charcot–Marie–Tooth; and (3) X-linked Charcot–Marie–Tooth and electrophysiology. We retrieved 225 articles reporting X-linked CMT or intermediate CMT with electrophysiological information. After eligibility, 156 papers were used for this review. In assessing median MNCV, compound muscle action potential (CMAP) amplitudes were taken into account. In cases with attenuated CMAP and wherever possible, proximal median MNCV was used for accurate definition of conduction slowing in the intermediate range. In the vast majority of males with X-linked CMT associated with GJB1 mutation (CMTX1), median MNCV was intermediate. CMT associated with DRP2 mutation is another well-documented X-linked intermediate disorder. Autosomal dominant intermediate CMT (DI-CMT) encompasses 11 different types; six of them with assigned phenotype MIM number and the remaining five being unnumbered. Based on available electrophysiological information, we wonder if DI-CMTA should be reclassified within CMT2. Autosomal recessive intermediate CMT (RI-CMT) covers four numbered MIM phenotypes though, in accordance with reported electrophysiology, two of them (RI-CMTB and RI-CMTD) should probably be reclassified within AR-CMT2. We conclude that intermediate CMT is a complex inherited syndrome, whose characterization requires a specific electrophysiological protocol comprising evaluation of upper limb proximal nerve trunks when distal CMAP amplitudes are reduced, and that an updated version of MIM phenotype numbering is needed.

Combarros O, Calleja J, Polo JM, Berciano J (1987) Prevalence of hereditary motor and sensory neuropathy in Cantabria. Acta Neurol Scand 75:9–12PubMedCrossRef

Dyck PJ (2005) Inherited neuronal degeneration and atrophy affecting peripheral motor, sensory, and autonomic neurons. In: Dyck PJ, Thomas PK, Lambert EH, Bunge R (eds) Peripheral neuropathy, 2nd edn. WB Saunders, Philadelphia, pp 1600–1655

Harding AE, Thomas PK (1980) The clinical features of hereditary motor and sensory neuropathy types I and II. Brain 103:259–280PubMedCrossRef

Davis CJ, Bradley WG, Madrid R (1978) The peroneal muscular atrophy syndrome: clinical, genetic, electrophysiological and nerve biopsy studies. I. Clinical, genetic and electrophysiological findings and classification. J Genet Hum 26:311–349PubMed

Madrid R, Bradley WG, Davis CJ (1977) The peroneal muscular atrophy syndrome. Clinical, genetic, electrophysiological and nerve biopsy studies. Observations on pathological changes in sural nerve biopsies. J Neurol Sci 32:91–122PubMedCrossRef

Buchthal F, Behse F (1977) Peroneal muscular atrophy (PMA) and related disorders. I. Clinical manifestations as related to biopsy findings, nerve conduction and electromyography. Brain 100:41–66PubMedCrossRef

Bouché P, Gherardi R, Cathala HP, Lhermitte F, Castaigne P (1983) Peroneal muscular atrophy. Part 1. Clinical and electrophysiological study. J Neurol Sci 61:389–399PubMedCrossRef

Gherardi R, Bouché P, Escourolle R, Hauw JJ (1983) Peroneal muscular atrophy. Part 2. Nerve biopsy studies. J Neurol Sci 61:401–416PubMedCrossRef

Saporta AS, Sottile SL, Miller LJ, Feely SM, Siskind CE, Shy ME (2011) Charcot–Marie–Tooth disease subtypes and genetic testing strategies. Ann Neurol 69:22–33PubMedPubMedCentralCrossRef

10.

Klein CJ, Duan X, Shy ME (2013) Inherited neuropathies: clinical overview and update. Muscle Nerve 48:604–622PubMedPubMedCentralCrossRef

11.

Nicholson G, Myers S (2006) Intermediate forms of Charcot–Marie–Tooth neuropathy: a review. Neuromol Med 8:123–130

12.

Preston DC, Shapiro BE (2005) Electromyography and neuromuscular disorders. Clinical-electrophysiologic correlations, 2nd edn. Elsevier/Butterworth Heinemann, Philadelphia

13.

Tankisi H, Pugdahl K, Johnsen B, Fuglsang-Frederiksen A (2007) Correlations of nerve conduction measures in axonal and demyelinating polyneuropathies. Clin Neurophysiol 118:2383–2392PubMedCrossRef

14.

Lawson VH, Gordon Smith A, Bromberg MB (2003) Assessment of axonal loss in Charcot–Marie–Tooth neuropathies. Exp Neurol 184:753–757PubMedCrossRef

15.

Behse F, Buchthal F (1977) Peroneal muscular atrophy (PMA) and related disorders. II. Histological findings in sural nerves. Brain 100:67–85PubMedCrossRef

16.

Berciano J, Combarros O, Figols J, Calleja J, Cabello A, Silos I, Coria F (1986) Hereditary motor and sensory neuropathy type II. Clinicopathological study of a family. Brain 109:897–914PubMedCrossRef

17.

Hahn AF (1993) Hereditary motor and sensory neuropathy: HMSN type II (neuronal type) and X-linked HMSN. Brain Pathol 3:147–155PubMedCrossRef

18.

Waxman SG (1980) Determinants of conduction velocity in myelinated nerve fibers. Muscle Nerve 3:141–150PubMedCrossRef

19.

Yum SW, Zhang J, Mo K, Li J, Scherer SS (2009) A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy. Ann Neurol 66:759–770PubMedPubMedCentralCrossRef

20.

Berciano J, Peeters K, García A, López-Alburquerque T, Gallardo E, Hernández-Fabián A, Pelayo-Negro AL, De Vriendt E, Infante J, Jordanova A (2016) NEFL N98S mutation: another cause of dominant intermediate Charcot–Marie–Tooth disease with heterogeneous early-onset phenotype. J Neurol 263:361–369PubMedCrossRef

21.

Oh SJ, Hemmi S, Kurokawa K, Hatanaka Y (2010) Intraoperative on-nerve nerve conduction study and conversion factor in the sural nerve. Muscle Nerve 42:373–378PubMedCrossRef

22.

Bienfait HM, Verhamme C, van Schaik IN, Koelman JH, de Visser BW, de Haan RJ, Baas F, van Engelen BG, de Visser M (2006) Comparison of CMT1A and CMT2: similarities and differences. J Neurol 253:1572–1580PubMedCrossRef

23.

Bienfait HM, Baas F, Koelman JH, de Haan RJ, van Engelen BG, Gabreëls-Festen AA, Ongerboer de Visser BW, Meggouh F, Weterman MA, De Jonghe P, Timmerman V, de Visser M (2007) Phenotype of Charcot–Marie–Tooth disease Type 2. Neurology 68:1658–1667PubMedCrossRef

24.

Berciano J, García A, Peeters K, Gallardo E, De Vriendt E, Pelayo-Negro AL, Infante J, Jordanova A (2015) NEFL E396K mutation is associated with a novel dominant intermediate Charcot–Marie–Tooth disease phenotype. J Neurol 262:1289–1300PubMedCrossRef

25.

Rossor AM, Polke JM, Houlden H, Reilly MM (2013) Clinical implications of genetic advances in Charcot–Marie–Tooth disease. Nat Rev Neurol 9:562–571PubMedCrossRef

26.

Rossor AM, Tomaselli PJ, Reilly MM (2016) Recent advances in the genetic neuropathies. Curr Opin Neurol 29:537–548PubMed

27.

Liu L, Zhang R (2014) Intermediate Charcot–Marie–Tooth disease. Neurosci Bull 30:999–1009PubMedCrossRef

28.

Baets J, De Jonghe P, Timmerman V (2014) Recent advances in Charcot–Marie–Tooth disease. Curr Opin Neurol 27:532–540PubMedCrossRef

29.

Nicolaou P, Zamba-Papanicolaou E, Koutsou P, Kleopa KA, Georghiou A, Hadjigeorgiou G, Papadimitriou A, Kyriakides T, Christodoulou K (2010) Charcot–Marie–Tooth disease in Cyprus: epidemiological, clinical and genetic characteristics. Neuroepidemiology 35:171–177PubMedCrossRef

30.

Murphy SM, Laura M, Fawcett K, Pandraud A, Liu YT, Davidson GL, Rossor AM, Polke JM, Castleman V, Manji H, Lunn MP, Bull K, Ramdharry G, Davis M, Blake JC, Houlden H, Reilly MM (2012) Charcot–Marie–Tooth disease: frequency of genetic subtypes and guidelines for genetic testing. J Neurol Neurosurg Psychiatry 83:706–710PubMedPubMedCentralCrossRef

31.

Braathen GJ (2012) Genetic epidemiology of Charcot–Marie–Tooth disease. Acta Neurol Scand Suppl 193:22

32.

Østern R, Fagerheim T, Hjellnes H, Nygård B, Mellgren SI, Nilssen Ø (2013) Diagnostic laboratory testing for Charcot Marie Tooth disease (CMT): the spectrum of gene defects in Norwegian patients with CMT and its implications for future genetic test strategies. BMC Med Genet 14:94PubMedPubMedCentralCrossRef

33.

Laššuthová P, Šafka Brožková D, Krůtová M, Neupauerová J, Haberlová J, Mazanec R, Dřímal P, Seeman P (2016) Improving diagnosis of inherited peripheral neuropathies through gene panel analysis. Orphanet J Rare Dis 11:118PubMedPubMedCentralCrossRef

34.

Lefter S, Hardiman O, Ryan AM (2017) A population-based epidemiologic study of adult neuromuscular disease in the Republic of Ireland. Neurology 88:304–313PubMedCrossRef

35.

Moher D, Liberati A, Tetzlaff J, Altman DG; PRISMA Group (2009) Preferred reporting items for systematic reviews and meta-analyses: the PRISMA statement. J Clin Epidemiol 62:1006–1012CrossRef

36.

García A, Calleja J, Antolín FM, Berciano J (2000) Peripheral motor and sensory nerve conduction studies in normal infants and children. Clin Neurophysiol 111:513–520PubMedCrossRef

37.

Midroni G, Bilbao JM (1995) Biopsy diagnosis of peripheral neuropathy. Boston Butterworth-Heineman, Boston, pp 35–43CrossRef

38.

Hahn AF, Brown WF, Koopman WJ, Feasby TE (1990) X-linked dominant hereditary motor and sensory neuropathy. Brain 113:1511–1525PubMedCrossRef

39.

Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC Jr, Krendel DA, Graham DG, Dawson DV, Roses AD (1987) Hereditary motor and sensory neuropathy, X-linked: a half century follow-up. Neurology 37:1460–1465PubMedCrossRef

40.

Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ (1999) Genotype/phenotype correlations in X-linked dominant Charcot–Marie–Tooth disease. Ann N Y Acad Sci 883:366–382PubMedCrossRef

41.

Sommer CL, Brandner S, Dyck PJ, Harati Y, LaCroix C, Lammens M, Magy L, Mellgren SI, Morbin M, Navarro C, Powell HC, Schenone AE, Tan E, Urtizberea A, Weis J, Peripheral Nerve Society (2010) Peripheral Nerve Society Guideline on processing and evaluation of nerve biopsies. J Peripher Nerv Syst 15:164–175PubMedCrossRef

42.

Scherer SS, Kleopa KA (2012) X-linked Charcot–Marie–Tooth disease. J Peripher Nerv Syst 17(Suppl 3):9–13PubMedPubMedCentralCrossRef

43.

Shy ME, Siskind C, Swan ER, Krajewski KM, Doherty T, Fuerst DR, Ainsworth PJ, Lewis RA, Scherer SS, Hahn AF (2007) CMT1X phenotypes represent loss of GJB1 gene function. Neurology 68:849–855PubMedCrossRef

44.

Siskind CE, Murphy SM, Ovens R, Polke J, Reilly MM, Shy ME (2011) Phenotype expression in women with CMT1X. J Peripher Nerv Syst 16:102–107PubMedCrossRef

45.

Jerath NU, Gutmann L, Reddy CG, Shy ME (2016) Charcot–Marie–Tooth disease type 1X in women: electrodiagnostic findings. Muscle Nerve 54:728–732PubMedCrossRef

46.

Phillips LH, Kelly TE, Schnatterly P, Parker D (1985) Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance. Neurology 35:498–502PubMedCrossRef

47.

Fischbeck KH, Ar-Rushdi N, Pericak-Vance M, Rozear M, Roses AD, Fryns JP (1986) X-linked neuropathy: gene localization with DNA probes. Ann Neurol 20:527–532PubMedCrossRef

48.

Kleopa KA, Abrams CK, Scherer SS (2012) How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease? Brain Res 1487:198–205PubMedPubMedCentralCrossRef

49.

Anzini P, Neuberg DH, Schachner M, Nelles E, Willecke K, Zielasek J, Toyka KV, Suter U, Martini R (1997) Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32. J Neurosci 17:4545–4551PubMed

50.

Scherer SS, Xu YT, Nelles E, Fischbeck K, Willecke K, Bone LJ (1998) Connexin32-null mice develop demyelinating peripheral neuropathy. Glia 24:8–20PubMedCrossRef

51.

Vavlitou N, Sargiannidou I, Markoullis K, Kyriacou K, Scherer SS, Kleopa KA (2010) Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot–Marie–Tooth neuropathy. J Neuropathol Exp Neurol 69:945–958PubMedPubMedCentralCrossRef

52.

Senderek J, Hermanns B, Bergmann C, Boroojerdi B, Bajbouj M, Hungs M, Ramaekers VT, Quasthoff S, Karch D, Schröder JM (1999) X-linked dominant Charcot–Marie–Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations. J Neurol Sci 167:90–101PubMedCrossRef

53.

Hahn AF, Ainsworth PJ, Naus CC, Mao J, Bolton CF (2000) Clinical and pathological observations in men lacking the gap junction protein connexin 32. Muscle Nerve Suppl 9:S39–S48PubMedCrossRef

54.

Hahn AF, Ainsworth PJ, Bolton CF, Bilbao JM, Vallat JM (2001) Pathological findings in the x-linked form of Charcot–Marie–Tooth disease: a morphometric and ultrastructural analysis. Acta Neuropathol 101:129–139PubMed

55.

Kleopa KA, Zamba-Papanicolaou E, Alevra X, Nicolaou P, Georgiou DM, Hadjisavvas A, Kyriakides T, Christodoulou K (2006) Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X. Neurology 66:396–402PubMedCrossRef

56.

Spencer PS, Thomas PK (1974) Ultrastructural studies of the dying-back process. II. The sequestration and removal by Schwann cells and oligodendrocytes of organelles from normal and diseases axons. J Neurocytol 3:763–783PubMedCrossRef

57.

Berciano J, García A, Figols J, Muñoz R, Berciano MT, Lafarga M (2000) Perineurium contributes to axonal damage in acute inflammatory demyelinating polyneuropathy. Neurology 55:552–559PubMedCrossRef

58.

Mostacciuolo ML, Müller E, Fardin P, Micaglio GF, Bardoni B, Guioli S, Camerino G, Danieli GA (1991) X-linked Charcot–Marie–Tooth disease. A linkage study in a large family by using 12 probes of the pericentromeric region. Hum Genet 87:23–27PubMedCrossRef

59.

Ionasescu VV, Trofatter J, Haines JL, Summers AM, Ionasescu R, Searby C (1992) X-linked recessive Charcot–Marie–Tooth neuropathy: clinical and genetic study. Muscle Nerve 15:368–373PubMedCrossRef

60.

Nicholson G, Nash J (1993) Intermediate nerve conduction velocities define X-linked Charcot–Marie–Tooth neuropathy families. Neurology 43:2558–2564PubMedCrossRef

61.

Oterino A, Montón FI, Cabrera VM, Pinto F, Gonzalez A, Lavilla NR (1996) Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot–Marie–Tooth disease. J Med Genet 33:413–415PubMedPubMedCentralCrossRef

62.

Ionasescu V, Ionasescu R, Searby C (1996) Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot–Marie–Tooth neuropathy. Am J Med Genet 63:486–491PubMedCrossRef

63.

Birouk N, LeGuern E, Maisonobe T, Rouger H, Gouider R, Tardieu S, Gugenheim M, Routon MC, Léger JM, Agid Y, Brice A, Bouche P (1998) X-linked Charcot–Marie–Tooth disease with connexin 32 mutations: clinical and electrophysiologic study. Neurology 50:1074–1082PubMedCrossRef

64.

Ainsworth PJ, Bolton CF, Murphy BC, Stuart JA, Hahn AF (1998) Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene. Hum Genet 103:242–244PubMedCrossRef

65.

Sander S, Nicholson GA, Ouvrier RA, McLeod JG, Pollard JD (1998) Charcot–Marie–Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1). Muscle Nerve 21:217–225PubMedCrossRef

66.

Gutierrez A, England JD, Sumner AJ, Ferer S, Warner LE, Lupski JR, Garcia CA (2000) Unusual electrophysiological findings in X-linked dominant Charcot–Marie–Tooth disease. Muscle Nerve 23:182–188PubMedCrossRef

67.

Dupré N, Cossette L, Hand CK, Bouchard JP, Rouleau GA, Puymirat J (2001) A founder mutation in French-Canadian families with X-linked hereditary neuropathy. Can J Neurol Sci 28:51–55PubMedCrossRef

68.

Nakagawa M, Takashima H, Umehara F, Arimura K, Miyashita F, Takenouchi N, Matsuyama W, Osame M (2001) Clinical phenotype in X-linked Charcot–Marie–Tooth disease with an entire deletion of the connexin 32 coding sequence. J Neurol Sci 185:31–37PubMedCrossRef

69.

Dubourg O, Tardieu S, Birouk N, Gouider R, Léger JM, Maisonobe T, Brice A, Bouche P, LeGuern E (2001) Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot–Marie–Tooth disease. Brain 124:1958–1967PubMedCrossRef

70.

Hattori N, Yamamoto M, Yoshihara T, Koike H, Nakagawa M, Yoshikawa H, Ohnishi A, Hayasaka K, Onodera O, Baba M, Yasuda H, Saito T, Nakashima K, Kira J, Kaji R, Oka N, Sobue G, Study Group for Hereditary Neuropathy in Japan (2003) Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients. Brain 126:134–135PubMedCrossRef

71.

Capasso M, Di Muzio A, Ferrarini M, De Angelis MV, Caporale CM, Lupo S, Cavallaro T, Fabrizi GM, Uncini A (2004) Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation. Clin Neurophysiol 115:64–70PubMedCrossRef

72.

Houlden H, Girard M, Cockerell C, Ingram D, Wood NW, Goossens M, Walker RW, Reilly MM (2004) Connexin 32 promoter P2 mutations: a mechanism of peripheral nerve dysfunction. Ann Neurol 56:730–734PubMedCrossRef

73.

Ryan MM, Jones HR Jr (2005) CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor. Muscle Nerve 31:528–530PubMedCrossRef

74.

Vondracek P, Seeman P, Hermanova M, Fajkusova L (2005) X-linked Charcot–Marie–Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene. Muscle Nerve 31:252–255PubMedCrossRef

75.

Liang GS, de Miguel M, Gómez-Hernández JM, Glass JD, Scherer SS, Mintz M, Barrio LC, Fischbeck KH (2005) Severe neuropathy with leaky connexin32 hemichannels. Ann Neurol 57:749–754PubMedCrossRef

76.

Zhang RX, Luo W, Zi XH, Xia K, Cai F, Xiao JF, Zhao GH, Zhang FF, Shen L, Jiang H, Tang BS (2005) Mutation screening of Cx32 in Han Chinese patients with Charcot–Marie–Tooth disease. Beijing Da Xue Xue Bao 37:68–71PubMed

77.

Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA (2006) Proof of genetic heterogeneity in X-linked Charcot–Marie–Tooth disease. Neurology 67:2016–2021PubMedCrossRef

78.

Beauvais K, Furby A, Latour P (2006) Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot–Marie–Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE. Neuromuscul Disord 16:14–18PubMedCrossRef

79.

Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML (2006) A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset. Neuromuscul Disord 16:878–881PubMedCrossRef

80.

Kim HS, Chung KW, Kang SH, Choi SK, Cho SY, Koo H, Kim SB, Choi BO (2010) Myotonic dystrophy type I combined with X-linked dominant Charcot–Marie–Tooth neuropathy. Neurogenetics 11:425–433PubMedCrossRef

81.

Vrancken AF, Spliet WG, van Ruissen F (2010) X-linked Charcot–Marie–Tooth disease with novel c.47A>T GJB1 gene mutation. J Peripher Nerv Syst 15:156–157PubMedCrossRef

82.

Sakaguchi H, Yamashita S, Miura A, Hirahara T, Kimura E, Maeda Y, Terasaki T, Hirano T, Uchino M (2011) A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot–Marie–Tooth disease. J Neurol 258:284–290PubMedCrossRef

83.

Yiu EM, Geevasinga N, Nicholson GA, Fagan ER, Ryan MM, Ouvrier RA (2011) A retrospective review of X-linked Charcot–Marie–Tooth disease in childhood. Neurology 76:461–466PubMedCrossRef

84.

Murphy SM, Polke J, Manji H, Blake J, Reiniger L, Sweeney M, Houlden H, Brandner S, Reilly MM (2011) A novel mutation in the nerve-specific 5′UTR of the GJB1 gene causes X-linked Charcot–Marie–Tooth disease. J Peripher Nerv Syst 16:65–70PubMedCrossRef

85.

Chen SD, Li ZX, Guan YT, Zhou XJ, Jiang JM, Hao Y (2011) A novel mutation of gap junction protein β 1 gene in X-linked Charcot–Marie–Tooth disease. Muscle Nerve 43:887–892PubMedCrossRef

86.

Borgulová I, Mazanec R, Sakmaryová I, Havlová M, Safka Brožková D, Seeman P (2013) Mosaicism for GJB1 mutation causes milder Charcot–Marie–Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman. Neurogenetics 14:189–195PubMedCrossRef

87.

Zhao Y, Xie Y, Zhu X, Wang H, Li Y, Li J (2014) Transient, recurrent, white matter lesions in x-linked Charcot–Marie–Tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report. BMC Neurol 14:156PubMedPubMedCentralCrossRef

88.

Liu L, Li X, Hu Z, Zi X, Zhao X, Xie Y, Huang S, Xia K, Tang B, Zhang R (2016) Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families. Clin Genet. doi:10.1111/cge.12913 (Epub ahead of print)

89.

Brennan KM, Bai Y, Pisciotta C, Wang S, Feely SM, Hoegger M, Gutmann L, Moore SA, Gonzalez M, Sherman DL, Brophy PJ, Züchner S, Shy ME (2015) Absence of Dystrophin Related Protein-2 disrupts Cajal bands in a patient with Charcot–Marie–Tooth disease. Neuromuscul Disord 25:786–793PubMedPubMedCentralCrossRef

90.

Rossi A, Paradiso C, Cioni R, Rizzuto N, Guazzi G (1985) Charcot–Marie–Tooth disease: study of a large kinship with an intermediate form. J Neurol 232:91–98PubMedCrossRef

91.

Malandrini A, Ceuterick C, Villanova M, Gambelli S, Berti G, Rossi A, Guazzi GC (2001) Ultrastructural findings in the peripheral nerve in a family with the intermediate form of Charcot–Marie–Tooth disease. J Submicrosc Cytol Pathol 33:59–63PubMed

92.

Villanova M, Timmerman V, De Jonghe P, Malandrini A, Rizzuto N, Van Broeckhoven C, Guazzi G, Rossi A (1998) Charcot–Marie–Tooth disease: an intermediate form. Neuromuscul Disord 8:392–393PubMedCrossRef

93.

Verhoeven K, Villanova M, Rossi A, Malandrini A, De Jonghe P, Timmerman V (2001) Localization of the gene for the intermediate form of Charcot–Marie–Tooth to chromosome 10q24.1-q25.1. Am J Hum Genet 69:889–894PubMedPubMedCentralCrossRef

94.

Kennerson ML, Zhu D, Gardner RJ, Storey E, Merory J, Robertson SP, Nicholson GA (2001) Dominant intermediate Charcot–Marie–Tooth neuropathy maps to chromosome 19p12-p13.2. Am J Hum Genet 69:883–888PubMedPubMedCentralCrossRef

95.

Zhu D, Kennerson M, Merory J, Chrast R, Verheijen M, Lemke G, Nicholson G (2003) Refined localization of dominant intermediate Charcot–Marie–Tooth neuropathy and exclusion of seven known candidate genes in the region. Neurogenetics 4:179–183PubMedCrossRef

96.

Speer MC, Graham FL, Bonner E, Collier K, Stajich JM, Gaskell PC, Pericak-Vance MA, Vance JM (2002) Reduction in the minimum candidate interval in the dominant-intermediate form of Charcot–Marie–Tooth neuropathy to D19S586 to D19S432. Neurogenetics 4:83–85PubMedCrossRef

97.

Züchner S, Noureddine M, Kennerson M, Verhoeven K, Claeys K, De Jonghe P, Merory J, Oliveira SA, Speer MC, Stenger JE, Walizada G, Zhu D, Pericak-Vance MA, Nicholson G, Timmerman V, Vance JM (2005) Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot–Marie–Tooth disease. Nat Genet 37:289–294PubMedCrossRef

98.

Claeys KG, Züchner S, Kennerson M, Berciano J, Garcia A, Verhoeven K, Storey E, Merory JR, Bienfait HM, Lammens M, Nelis E, Baets J, De Vriendt E, Berneman ZN, De Veuster I, Vance JM, Nicholson G, Timmerman V, De Jonghe P (2009) Phenotypic spectrum of dynamin 2 mutations in Charcot–Marie–Tooth neuropathy. Brain 132:1741–1752PubMedPubMedCentralCrossRef

99.

Gallardo E, Claeys KG, Nelis E, García A, Canga A, Combarros O, Timmerman V, De Jonghe P, Berciano J (2008) Magnetic resonance imaging findings of leg musculature in Charcot–Marie–Tooth disease type 2 due to dynamin 2 mutation. J Neurol 255:986–992PubMedCrossRef

100.

Fabrizi GM, Ferrarini M, Cavallaro T, Cabrini I, Cerini R, Bertolasi L, Rizzuto N (2007) Two novel mutations in dynamin-2 cause axonal Charcot–Marie–Tooth disease. Neurology 69:291–295PubMedCrossRef

101.

Bitoun M, Stojkovic T, Prudhon B, Maurage CA, Latour P, Vermersch P, Guicheney P (2008) A novel mutation in the dynamin 2 gene in a Charcot–Marie–Tooth type 2 patient: clinical and pathological findings. Neuromuscul Disord 18:334–338PubMedCrossRef

102.

Jordanova A, Thomas FP, Guergueltcheva V, Tournev I, Gondim FA, Ishpekova B, De Vriendt E, Jacobs A, Litvinenko I, Ivanova N, Buzhov B, De Jonghe P, Kremensky I, Timmerman V (2003) Dominant intermediate Charcot–Marie–Tooth type C maps to chromosome 1p34-p35. Am J Hum Genet 73:1423–1430PubMedPubMedCentralCrossRef

103.

Jordanova A, Irobi J, Thomas FP, Van Dijck P, Meerschaert K, Dewil M, Dierick I, Jacobs A, De Vriendt E, Guergueltcheva V, Rao CV, Tournev I, Gondim FA, D’Hooghe M, Van Gerwen V, Callaerts P, Van Den Bosch L, Timmermans JP, Robberecht W, Gettemans J, Thevelein JM, De Jonghe P, Kremensky I, Timmerman V (2006) Disrupted function and axonal distribution of mutant tyrosyl-tRNA synthetase in dominant intermediate Charcot–Marie–Tooth neuropathy. Nat Genet 38:197–202PubMedCrossRef

104.

Oprescu SN, Griffin LB, Beg AA, Antonellis A (2017) Predicting the pathogenicity of aminoacyl-tRNA synthetase mutations. Methods 113:139–151PubMedCrossRef

105.

Storkebaum E, Leitão-Gonçalves R, Godenschwege T, Nangle L, Mejia M, Bosmans I, Ooms T, Jacobs A, Van Dijck P, Yang XL, Schimmel P, Norga K, Timmerman V, Callaerts P, Jordanova A (2009) Dominant mutations in the tyrosyl-tRNA synthetase gene recapitulate in Drosophila features of human Charcot–Marie–Tooth neuropathy. Proc Natl Acad Sci USA 106:11782–11787PubMedPubMedCentralCrossRef

106.

Thomas FP, Guergueltcheva V, Gondim FA, Tournev I, Rao CV, Ishpekova B, Kinsella LJ, Pan Y, Geller TJ, Litvinenko I, De Jonghe P, Scherer SS, Jordanova A (2016) Clinical, neurophysiological and morphological study of dominant intermediate Charcot–Marie–Tooth type C neuropathy. J Neurol 263:467–476PubMedCrossRef

107.

Mastaglia FL, Nowak KJ, Stell R, Phillips BA, Edmondston JE, Dorosz SM, Wilton SD, Hallmayer J, Kakulas BA, Laing NG (1999) Novel mutation in the myelin protein zero gene in a family with intermediate hereditary motor and sensory neuropathy. J Neurol Neurosurg Psychiatry 67:174–179PubMedPubMedCentralCrossRef

108.

Sowden JE, Logigian EL, Malik K, Herrmann DN (2005) Genotype-phenotype correlation in a family with late onset CMT and an MPZ lys236del mutation. J Neurol Neurosurg Psychiatry 76:442–444PubMedPubMedCentralCrossRef

109.

Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA (2010) Charcot–Marie–Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene. Muscle Nerve 42:184–188PubMedCrossRef

110.

Ramirez JD, Barnes PR, Mills KR, Bennett DL (2012) Intermediate Charcot–Marie–Tooth disease due to a novel Trp101Stop myelin protein zero mutation associated with debilitating neuropathic pain. Pain 153:1763–1768PubMedPubMedCentralCrossRef

111.

Boyer O, Nevo F, Plaisier E, Funalot B, Gribouval O, Benoit G, Huynh Cong E, Arrondel C, Tête MJ, Montjean R, Richard L, Karras A, Pouteil-Noble C, Balafrej L, Bonnardeaux A, Canaud G, Charasse C, Dantal J, Deschenes G, Deteix P, Dubourg O, Petiot P, Pouthier D, Leguern E, Guiochon-Mantel A, Broutin I, Gubler MC, Saunier S, Ronco P, Vallat JM, Alonso MA, Antignac C, Mollet G (2011) INF2 mutations in Charcot–Marie–Tooth disease with glomerulopathy. N Engl J Med 365:2377–2388PubMedCrossRef

112.

Mademan I, Deconinck T, Dinopoulos A, Voit T, Schara U, Devriendt K, Meijers B, Lerut E, De Jonghe P, Baets J (2013) De novo INF2 mutations expand the genetic spectrum of hereditary neuropathy with glomerulopathy. Neurology 81:1953–1958PubMedCrossRef

113.

Mathis S, Funalot B, Boyer O, Lacroix C, Marcorelles P, Magy L, Richard L, Antignac C, Vallat JM (2014) Neuropathologic characterization of INF2-related Charcot–Marie–Tooth disease: evidence for a Schwann cell actinopathy. J Neuropathol Exp Neurol 73:223–233PubMedCrossRef

114.

Park HJ, Kim HJ, Hong YB, Nam SH, Chung KW, Choi BO (2014) A novel INF2 mutation in a Korean family with autosomal dominant intermediate Charcot–Marie–Tooth disease and focal segmental glomerulosclerosis. J Peripher Nerv Syst 19:175–179PubMedCrossRef

115.

Roos A, Weis J, Korinthenberg R, Fehrenbach H, Häusler M, Züchner S, Mache C, Hubmann H, Auer-Grumbach M, Senderek J (2015) Inverted formin 2-related Charcot–Marie–Tooth disease: extension of the mutational spectrum and pathological findings in Schwann cells and axons. J Peripher Nerv Syst 20:52–59PubMedCrossRef

116.

Jin S, Wang W, Wang R, Lv H, Zhang W, Wang Z, Jiao J, Yuan Y (2015) INF2 mutations associated with dominant inherited intermediate Charcot–Marie–Tooth neuropathy with focal segmental glomerulosclerosis in two Chinese patients. Clin Neuropathol 34:275–281PubMedCrossRef

117.

Lee YC, Lee TC, Lin KP, Lin MW, Chang MH, Soong BW (2010) Clinical characterization and genetic analysis of a possible novel type of dominant Charcot–Marie–Tooth disease. Neuromuscul Disord 20:534–539PubMedCrossRef

118.

Soong BW, Huang YH, Tsai PC, Huang CC, Pan HC, Lu YC, Chien HJ, Liu TT, Chang MH, Lin KP, Tu PH, Kao LS, Lee YC (2013) Exome sequencing identifies GNB4 mutations as a cause of dominant intermediate Charcot–Marie–Tooth disease. Am J Hum Genet 92:422–430PubMedPubMedCentralCrossRef

119.

Laššuthová P, Šafka Brožková D, Neupauerová J, Krůtová M, Mazanec R, Seeman P (2017) Confirmation of the GNB4 gene as causal for Charcot–Marie–Tooth disease by a novel de novo mutation in a Czech patient. Neuromuscul Disord 27:57–60PubMedCrossRef

120.

Perrot R, Berges R, Bocquet A, Eyer J (2008) Review of the multiple aspects of neurofilament functions, and their possible contribution to neurodegeneration. Mol Neurobiol 38:27–65PubMedCrossRef

121.

Liem RK, Messing A (2009) Dysfunctions of neuronal and glial intermediate filaments in disease. J Clin Invest 119:1814–1824PubMedPubMedCentralCrossRef

122.

Perez-Olle R, Leung CL, Liem RK (2002) Effects of Charcot–Marie–Tooth-linked mutations of the neurofilament light subunit on intermediate filament formation. J Cell Sci 115:4937–4946PubMedCrossRef

123.

Züchner S, Vorgerd M, Sindern E, Schröder JM (2004) The novel neurofilament light (NEFL) mutation Glu397Lys is associated with a clinically and morphologically heterogeneous type of Charcot–Marie–Tooth neuropathy. Neuromuscul Disord 14:147–157PubMedCrossRef

124.

Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN (2007) Clinical and electrophysiological features in Charcot–Marie–Tooth disease with mutations in the NEFL gene. Arch Neurol 64:966–970PubMedCrossRef

125.

Lin KP, Soong BW, Yang CC, Huang LW, Chang MH, Lee IH, Antonellis A, Lee YC (2011) The mutational spectrum in a cohort of Charcot–Marie–Tooth disease type 2 among the Han Chinese in Taiwan. PLoS One 6:e29393PubMedPubMedCentralCrossRef

126.

Yang Y, Gu LQ, Burnette WB, Li J (2016) N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy. J Neurol Sci 365:46–47PubMedPubMedCentralCrossRef

127.

Lawson VH, Graham BV, Flanigan KM (2005) Clinical and electrophysiologic features of CMT2A with mutations in the mitofusin 2 gene. Neurology 65:197–204PubMedCrossRef

128.

Verhoeven K, Claeys KG, Züchner S, Schröder JM, Weis J, Ceuterick C, Jordanova A, Nelis E, De Vriendt E, Van Hul M, Seeman P, Mazanec R, Saifi GM, Szigeti K, Mancias P, Butler IJ, Kochanski A, Ryniewicz B, De Bleecker J, Van den Bergh P, Verellen C, Van Coster R, Goemans N, Auer-Grumbach M, Robberecht W, Milic Rasic V, Nevo Y, Tournev I, Guergueltcheva V, Roelens F, Vieregge P, Vinci P, Moreno MT, Christen HJ, Shy ME, Lupski JR, Vance JM, De Jonghe P, Timmerman V (2006) MFN2 mutation distribution and genotype/phenotype correlation in Charcot–Marie–Tooth type 2. Brain 129:2093–2102PubMedCrossRef

129.

Braathen GJ, Sand JC, Lobato A, Høyer H, Russell MB (2010) MFN2 point mutations occur in 3.4% of Charcot–Marie–Tooth families. An investigation of 232 Norwegian CMT families. BMC Med Genet 11:48PubMedPubMedCentralCrossRef

130.

Latour P, Thauvin-Robinet C, Baudelet-Méry C, Soichot P, Cusin V, Faivre L, Locatelli MC, Mayençon M, Sarcey A, Broussolle E, Camu W, David A, Rousson R (2010) A major determinant for binding and aminoacylation of tRNA(Ala) in cytoplasmic Alanyl-tRNA synthetase is mutated in dominant axonal Charcot–Marie–Tooth disease. Am J Hum Genet 86:77–82PubMedPubMedCentralCrossRef

131.

Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R (2015) Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland. J Neurol 262:1899–1908PubMedPubMedCentralCrossRef

132.

Spaans F, Jennekens FG, Mirandolle JF, Bijlsma JB, de Gast GC (1986) Myotonic dystrophy associated with hereditary motor and sensory neuropathy. Brain 109:1149–1168PubMedCrossRef

133.

Spaans F, Faber CG, Smeets HJ, Hofman PA, Braida C, Monckton DG, de Die-Smulders CE (2009) Encephalopathic attacks in a family co-segregating myotonic dystrophy type 1, an intermediate Charcot–Marie–Tooth neuropathy and early hearing loss. J Neurol Neurosurg Psychiatry 80:1029–1035PubMedCrossRef

134.

Brunner HG, Spaans F, Smeets HJ, Coerwinkel-Driessen M, Hulsebos T, Wieringa B, Ropers HH (1991) Genetic linkage with chromosome 19 but not chromosome 17 in a family with myotonic dystrophy associated with hereditary motor and sensory neuropathy. Neurology 41:80–84PubMedCrossRef

135.

LaMonte BH, Wallace KE, Holloway BA, Shelly SS, Ascaño J, Tokito M, Van Winkle T, Howland DS, Holzbaur EL (2002) Disruption of dynein/dynactin inhibits axonal transport in motor neurons causing late-onset progressive degeneration. Neuron 34:715–727PubMedCrossRef

136.

Braathen GJ, Høyer H, Busk ØL, Tveten K, Skjelbred CF, Russell MB (2016) Variants in the genes DCTN2, DNAH10, LRIG3, and MYO1A are associated with intermediate Charcot–Marie–Tooth disease in a Norwegian family. Acta Neurol Scand 134:67–75PubMedCrossRef

137.

Sevilla T, Sivera R, Martínez-Rubio D, Lupo V, Chumillas MJ, Calpena E, Dopazo J, Vílchez JJ, Palau F, Espinós C (2015) The EGR2 gene is involved in axonal Charcot–Marie–Tooth disease. Eur J Neurol 22:1548–1555PubMedCrossRef

138.

Solla P, Vannelli A, Bolino A, Marrosu G, Coviello S, Murru MR, Tranquilli S, Corongiu D, Benedetti S, Marrosu MG (2010) Heat shock protein 27 R127 W mutation: evidence of a continuum between axonal Charcot–Marie–Tooth and distal hereditary motor neuropathy. J Neurol Neurosurg Psychiatry 81:958–962PubMedCrossRef

139.

Baxter RV, Ben Othmane K, Rochelle JM, Stajich JE, Hulette C, Dew-Knight S, Hentati F, Ben Hamida M, Bel S, Stenger JE, Gilbert JR, Pericak-Vance MA, Vance JM (2002) Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot–Marie–Tooth disease type 4A/8q21. Nat Genet 30:21–22PubMedCrossRef

140.

Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F (2002) The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot–Marie–Tooth type 4A disease. Nat Genet 30:22–25PubMedCrossRef

141.

Claramunt R, Pedrola L, Sevilla T, López de Munain A, Berciano J, Cuesta A, Sánchez-Navarro B, Millán JM, Saifi GM, Lupski JR, Vílchez JJ, Espinós C, Palau F (2005) Genetics of Charcot–Marie–Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect. J Med Genet 42:358–365PubMedPubMedCentralCrossRef

142.

Crimella C, Tonelli A, Airoldi G, Baschirotto C, D’Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT (2010) The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K. J Med Genet 47:712–716PubMedCrossRef

143.

Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T (2010) Phenotypical features of the p. R120W mutation in the GDAP1 gene causing autosomal dominant Charcot–Marie–Tooth disease. J Peripher Nerv Syst 15:334–344PubMedCrossRef

144.

Zimoń M, Baets J, Fabrizi GM, Jaakkola E, Kabzińska D, Pilch J, Schindler AB, Cornblath DR, Fischbeck KH, Auer-Grumbach M, Guelly C, Huber N, De Vriendt E, Timmerman V, Suter U, Hausmanowa-Petrusewicz I, Niemann A, Kochański A, De Jonghe P, Jordanova A (2011) Dominant GDAP1 mutations cause predominantly mild CMT phenotypes. Neurology 77:540–548PubMedPubMedCentralCrossRef

145.

Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ (2003) Clinical, electrophysiological and morphological findings of Charcot–Marie–Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene. Brain 126:2023–2033PubMedCrossRef

146.

Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F (2008) Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy. Brain 131:3051–3061PubMedCrossRef

147.

Nelis E, Erdem S, Van Den Bergh PY, Belpaire-Dethiou MC, Ceuterick C, Van Gerwen V, Cuesta A, Pedrola L, Palau F, Gabreëls-Festen AA, Verellen C, Tan E, Demirci M, Van Broeckhoven C, De Jonghe P, Topaloglu H, Timmerman V (2002) Mutations in GDAP1: autosomal recessive CMT with demyelination and axonopathy. Neurology 59:1865–1872PubMedCrossRef

148.

Kabzińska D, Niemann A, Drac H, Huber N, Potulska-Chromik A, Hausmanowa-Petrusewicz I, Suter U, Kochański A (2011) A new missense GDAP1 mutation disturbing targeting to the mitochondrial membrane causes a severe form of AR-CMT2C disease. Neurogenetics 12:145–153PubMedCrossRef

149.

Senderek J, Bergmann C, Ramaekers VT, Nelis E, Bernert G, Makowski A, Züchner S, De Jonghe P, Rudnik-Schöneborn S, Zerres K, Schröder JM (2003) Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot–Marie–Tooth neuropathy. Brain 126:642–649PubMedCrossRef

150.

Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO (2011) Two recessive intermediate Charcot–Marie–Tooth patients with GDAP1 mutations. J Peripher Nerv Syst 16:143–146PubMedCrossRef

151.

McLaughlin HM, Sakaguchi R, Liu C, Igarashi T, Pehlivan D, Chu K, Iyer R, Cruz P, Cherukuri PF, Hansen NF, Mullikin JC, NISC Comparative Sequencing Program, Biesecker LG, Wilson TE, Ionasescu V, Nicholson G, Searby C, Talbot K, Vance JM, Züchner S, Szigeti K, Lupski JR, Hou YM, Green ED, Antonellis A (2010) Compound heterozygosity for loss-of-function lysyl-tRNA synthetase mutations in a patient with peripheral neuropathy. Am J Hum Genet 87:560–566PubMedPubMedCentralCrossRef

152.

Maystadt I, Rezsöhazy R, Barkats M, Duque S, Vannuffel P, Remacle S, Lambert B, Najimi M, Sokal E, Munnich A, Viollet L, Verellen-Dumoulin C (2007) The nuclear factor kappaB-activator gene PLEKHG5 is mutated in a form of autosomal recessive lower motor neuron disease with childhood onset. Am J Hum Genet 81:67–76PubMedPubMedCentralCrossRef

153.

Azzedine H, Zavadakova P, Planté-Bordeneuve V, Vaz Pato M, Pinto N, Bartesaghi L, Zenker J, Poirot O, Bernard-Marissal N, Arnaud Gouttenoire E, Cartoni R, Title A, Venturini G, Médard JJ, Makowski E, Schöls L, Claeys KG, Stendel C, Roos A, Weis J, Dubourg O, Leal Loureiro J, Stevanin G, Said G, Amato A, Baraban J, LeGuern E, Senderek J, Rivolta C, Chrast R (2013) PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease. Hum Mol Genet 22:4224–4232PubMedPubMedCentralCrossRef

154.

Kim HJ, Hong YB, Park JM, Choi YR, Kim YJ, Yoon BR, Koo H, Yoo JH, Kim SB, Park M, Chung KW, Choi BO (2013) Mutations in the PLEKHG5 gene is relevant with autosomal recessive intermediate Charcot–Marie–Tooth disease. Orphanet J Rare Dis 8:104PubMedPubMedCentralCrossRef

155.

Tamiya G, Makino S, Hayashi M, Abe A, Numakura C, Ueki M, Tanaka A, Ito C, Toshimori K, Ogawa N, Terashima T, Maegawa H, Yanagisawa D, Tooyama I, Tada M, Onodera O, Hayasaka K (2014) A mutation of COX6A1 causes a recessive axonal or mixed form of Charcot–Marie–Tooth disease. Am J Hum Genet 95:294–300PubMedPubMedCentralCrossRef

156.

Laššuthová P, Beharka R, Krůtová M, Neupauerová J, Seeman P (2016) COX6A1 mutation causes axonal hereditary motor and sensory neuropathy - the confirmation of the primary report. Clin Genet 89:512–514CrossRef

Titel: Intermediate Charcot–Marie–Tooth disease: an electrophysiological reappraisal and systematic review
verfasst von: José Berciano
Antonio García
Elena Gallardo
Kristien Peeters
Ana L. Pelayo-Negro
Silvia Álvarez-Paradelo
José Gazulla
Miriam Martínez-Tames
Jon Infante
Albena Jordanova
Publikationsdatum: 31.03.2017
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 8/2017
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-017-8474-3

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

Niedriger diastolischer Blutdruck erhöht Risiko für schwere kardiovaskuläre Komplikationen

25.04.2024 Hypotonie Nachrichten

Wenn unter einer medikamentösen Hochdrucktherapie der diastolische Blutdruck in den Keller geht, steigt das Risiko für schwere kardiovaskuläre Ereignisse: Darauf deutet eine Sekundäranalyse der SPRINT-Studie hin.

Frühe Alzheimertherapie lohnt sich

25.04.2024 AAN-Jahrestagung 2024 Nachrichten

Ist die Tau-Last noch gering, scheint der Vorteil von Lecanemab besonders groß zu sein. Und beginnen Erkrankte verzögert mit der Behandlung, erreichen sie nicht mehr die kognitive Leistung wie bei einem früheren Start. Darauf deuten neue Analysen der Phase-3-Studie Clarity AD.

Viel Bewegung in der Parkinsonforschung

25.04.2024 Parkinson-Krankheit Nachrichten

Neue arznei- und zellbasierte Ansätze, Frühdiagnose mit Bewegungssensoren, Rückenmarkstimulation gegen Gehblockaden – in der Parkinsonforschung tut sich einiges. Auf dem Deutschen Parkinsonkongress ging es auch viel um technische Innovationen.

Demenzkranke durch Antipsychotika vielfach gefährdet

23.04.2024 Demenz Nachrichten

Wenn Demenzkranke aufgrund von Symptomen wie Agitation oder Aggressivität mit Antipsychotika behandelt werden, sind damit offenbar noch mehr Risiken verbunden als bislang angenommen.

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

Abstract

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 8/2017

Phenytoin: 80 years young, from epilepsy to breast cancer, a remarkable molecule with multiple modes of action

The relevance of gender in Parkinson’s disease: a review

Biomolecular diagnosis of myotonic dystrophy type 2: a challenging approach

Acute disseminated encephalomyelitis: prognostic value of early follow-up brain MRI

Driving with a neurodegenerative disorder: an overview of the current literature