nach oben

Journal of Neurology

Erschienen in:

28.04.2016 | Review

Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies

verfasst von: Xavier Ayrignac, Clemence Boutiere, Clarisse Carra-dalliere, Pierre Labauge

Erschienen in: Journal of Neurology | Ausgabe 12/2016

Einloggen, um Zugang zu erhalten

Abstract

Adult-onset genetic leukoencephalopathies are increasingly recognized. They are heterogeneous groups of disorders that commonly have distinct pathologic mechanisms but they share the presence of supratentorial bilateral and symmetric white matter hyperintensities. Although these abnormalities are usually non-specific, some specific MRI findings exist and sometimes help to distinguish these disorders. In this review, our aim is to describe posterior fossa abnormalities seen in the main adult-onset genetic leukoencephalopathies enabling clinicians to perform oriented genetic/metabolic screening.

Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R (2010) The burden of inherited leukodystrophies in children. Neurology 75(8):718–725CrossRefPubMedPubMedCentral

Ayrignac X, Carra-Dalliere C, Menjot de Champfleur N, Denier C, Aubourg P, Bellesme C et al (2015) Adult-onset genetic leukoencephalopathies: a MRI pattern-based approach in a comprehensive study of 154 patients. Brain J Neurol 138(Pt 2):284–292CrossRef

Verdura E, Hervé D, Scharrer E, Amador MDM, Guyant-Maréchal L, Philippi A et al (2015) Heterozygous HTRA1 mutations are associated with autosomal dominant cerebral small vessel disease. Brain J Neurol 138(Pt 8):2347–2358CrossRef

Lynch DS, Jaunmuktane Z, Sheerin UM, Phadke R, Brandner S, Milonas I, et al. (2015 ) Hereditary leukoencephalopathy with axonal spheroids: a spectrum of phenotypes from CNS vasculitis to parkinsonism in an adult onset leukodystrophy series. J Neurol Neurosurg Psychiatry jnnp-2015-310788. doi:10.1136/jnnp-2015-310788

Ahmed RM, Murphy E, Davagnanam I, Parton M, Schott JM, Mummery CJ et al (2014) A practical approach to diagnosing adult onset leukodystrophies. J Neurol Neurosurg Psychiatry 85(7):770–781CrossRefPubMed

Labauge P, Carra-Dalliere C, de Champfleur NM, Ayrignac X, Boespflug-Tanguy O (2014) MRI pattern approach of adult-onset inherited leukoencephalopathies. Neurol Clin Pract. 4(4):287–295CrossRef

Chabriat H, Levy C, Taillia H, Iba-Zizen MT, Vahedi K, Joutel A et al (1998) Patterns of MRI lesions in CADASIL. Neurology 51(2):452–457CrossRefPubMed

van den Boom R, Lesnik Oberstein SAJ, Ferrari MD, Haan J, van Buchem MA (2003) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: MR imaging findings at different ages—3rd–6th decades. Radiology 229(3):683–690CrossRefPubMed

Chabriat H, Mrissa R, Levy C, Vahedi K, Taillia H, Iba-Zizen MT et al (1999) Brain stem MRI signal abnormalities in CADASIL. Stroke J Cereb Circ 30(2):457–459CrossRef

10.

Liem MK, Lesnik Oberstein SAJ, Haan J, van der Neut IL, van den Boom R, Ferrari MD et al (2008) Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: progression of MR abnormalities in prospective 7-year follow-up study. Radiology 249(3):964–971CrossRefPubMed

11.

Viswanathan A, Guichard J-P, Gschwendtner A, Buffon F, Cumurcuic R, Boutron C et al (2006) Blood pressure and haemoglobin A1c are associated with microhaemorrhage in CADASIL: a two-centre cohort study. Brain J Neurol 129(Pt 9):2375–2383CrossRef

12.

Singhal S, Rich P, Markus HS (2005) The spatial distribution of MR imaging abnormalities in cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy and their relationship to age and clinical features. AJNR Am J Neuroradiol 26(10):2481–2487PubMed

13.

Lanfranconi S, Markus HS (2010) COL4A1 mutations as a monogenic cause of cerebral small vessel disease: a systematic review. Stroke J Cereb Circ. 41(8):e513–e518CrossRef

14.

Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J et al (2012) Childhood presentation of COL4A1 mutations. Dev Med Child Neurol 54(6):569–574CrossRefPubMed

15.

Vahedi K, Boukobza M, Massin P, Gould DB, Tournier-Lasserve E, Bousser M-G (2007) Clinical and brain MRI follow-up study of a family with COL4A1 mutation. Neurology 69(16):1564–1568CrossRefPubMed

16.

Alamowitch S, Plaisier E, Favrole P, Prost C, Chen Z, Van Agtmael T et al (2009) Cerebrovascular disease related to COL4A1 mutations in HANAC syndrome. Neurology 73(22):1873–1882CrossRefPubMedPubMedCentral

17.

Vahedi K, Alamowitch S (2011) Clinical spectrum of type IV collagen (COL4A1) mutations: a novel genetic multisystem disease. Curr Opin Neurol 24(1):63–68CrossRefPubMed

18.

De Stefano N, Dotti MT, Mortilla M, Federico A (2001) Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis. Brain J Neurol 124(Pt 1):121–131CrossRef

19.

Barkhof F, Verrips A, Wesseling P, van Der Knaap MS, van Engelen BG, Gabreëls FJ et al (2000) Cerebrotendinous xanthomatosis: the spectrum of imaging findings and the correlation with neuropathologic findings. Radiology 217(3):869–876CrossRefPubMed

20.

Androdias G, Vukusic S, Gignoux L, Boespflug-Tanguy O, Acquaviva C, Zabot M-T et al (2012) Leukodystrophy with a cerebellar cystic aspect and intracranial atherosclerosis: an atypical presentation of cerebrotendinous xanthomatosis. J Neurol 259(2):364–366CrossRefPubMed

21.

Loes DJ, Fatemi A, Melhem ER, Gupte N, Bezman L, Moser HW et al (2003) Analysis of MRI patterns aids prediction of progression in X-linked adrenoleukodystrophy. Neurology 61(3):369–374CrossRefPubMed

22.

Elenein RA, Naik S, Kim S, Punia V, Jin K (2013) Teaching neuroimages: cerebral adrenoleukodystrophy: a rare adult form. Neurology 80(6):e69–e70CrossRefPubMed

23.

Suda S, Komaba Y, Kumagai T, Yamazaki M, Katsumata T, Kamiya T et al (2006) Progression of the olivopontocerebellar form of adrenoleukodystrophy as shown by MRI. Neurology 66(1):144–145CrossRefPubMed

24.

Kusaka H, Imai T (1992) Ataxic variant of adrenoleukodystrophy: MRI and CT findings. J Neurol 239(6):307–310CrossRefPubMed

25.

Debs R, Froissart R, Aubourg P, Papeix C, Douillard C, Degos B et al (2013) Krabbe disease in adults: phenotypic and genotypic update from a series of 11 cases and a review. J Inherit Metab Dis 36(5):859–868CrossRefPubMed

26.

Eichler F, Grodd W, Grant E, Sessa M, Biffi A, Bley A et al (2009) Metachromatic leukodystrophy: a scoring system for brain MR imaging observations. AJNR Am J Neuroradiol 30(10):1893–1897CrossRefPubMed

27.

Steenweg ME, Salomons GS, Yapici Z, Uziel G, Scalais E, Zafeiriou DI et al (2009) L-2-Hydroxyglutaric aciduria: pattern of MR imaging abnormalities in 56 patients. Radiology 251(3):856–865CrossRefPubMed

28.

van der Knaap MS, Kamphorst W, Barth PG, Kraaijeveld CL, Gut E, Valk J (1998) Phenotypic variation in leukoencephalopathy with vanishing white matter. Neurology 51(2):540–547CrossRefPubMed

29.

van der Knaap MS, Leegwater PAJ, van Berkel CGM, Brenner C, Storey E, Di Rocco M et al (2004) Arg113His mutation in eIF2Bepsilon as cause of leukoencephalopathy in adults. Neurology 62(9):1598–1600CrossRefPubMed

30.

Carra-Dalliere C, Scherer C, Ayrignac X, Menjot de Champfleur N, Bellesme C, Labauge P et al (2013) Adult-onset cerebral X-linked adrenoleukodystrophy with major contrast-enhancement mimicking acquired disease. Clin Neurol Neurosurg 115(9):1906–1907CrossRefPubMed

31.

van der Knaap MS, Pronk JC, Scheper GC (2006) Vanishing white matter disease. Lancet Neurol 5(5):413–423CrossRefPubMed

32.

Labauge P, Horzinski L, Ayrignac X, Blanc P, Vukusic S, Rodriguez D et al (2009) Natural history of adult-onset eIF2B-related disorders: a multi-centric survey of 16 cases. Brain J Neurol 132(Pt 8):2161–2169CrossRef

33.

Finnsson J, Sundblom J, Dahl N, Melberg A, Raininko R (2015) LMNB1-related autosomal-dominant leukodystrophy: clinical and radiological course. Ann Neurol 78(3):412–425CrossRefPubMedPubMedCentral

34.

Melberg A, Hallberg L, Kalimo H, Raininko R (2006) MR characteristics and neuropathology in adult-onset autosomal dominant leukodystrophy with autonomic symptoms. AJNR Am J Neuroradiol 27(4):904–911PubMed

35.

Brussino A, Vaula G, Cagnoli C, Panza E, Seri M, Di Gregorio E et al (2010) A family with autosomal dominant leukodystrophy linked to 5q23.2-q23.3 without lamin B1 mutations. Eur J Neurol 17(4):541–549CrossRefPubMed

36.

Tzoulis C, Tran GT, Gjerde IO, Aasly J, Neckelmann G, Rydland J et al (2012) Leukoencephalopathy with brainstem and spinal cord involvement caused by a novel mutation in the DARS2 gene. J Neurol 259(2):292–296CrossRefPubMed

37.

Labauge P, Dorboz I, Eymard-Pierre E, Dereeper O, Boespflug-Tanguy O (2011) Clinically asymptomatic adult patient with extensive LBSL MRI pattern and DARS2 mutations. J Neurol 258(2):335–337CrossRefPubMed

38.

Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong L-J, Salomons GS et al (2014) Novel (ovario) leukodystrophy related to AARS2 mutations. Neurology 82(23):2063–2071CrossRefPubMedPubMedCentral

39.

Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S et al (2008) Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 29(6):1190–1196CrossRefPubMed

40.

Graff-Radford J, Schwartz K, Gavrilova RH, Lachance DH, Kumar N (2014) Neuroimaging and clinical features in type II (late-onset) Alexander disease. Neurology 82(1):49–56CrossRefPubMedPubMedCentral

41.

Namekawa M, Takiyama Y, Honda J, Shimazaki H, Sakoe K, Nakano I (2010) Adult-onset Alexander disease with typical « tadpole » brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature. BMC Neurol 10:21CrossRefPubMedPubMedCentral

42.

Mochel F, Schiffmann R, Steenweg ME, Akman HO, Wallace M, Sedel F et al (2012) Adult polyglucosan body disease: natural history and key magnetic resonance imaging findings. Ann Neurol 72(3):433–441CrossRefPubMedPubMedCentral

43.

Hellmann MA, Kakhlon O, Landau EH, Sadeh M, Giladi N, Schlesinger I et al (2015) Frequent misdiagnosis of adult polyglucosan body disease. J Neurol 262(10):2346–2351CrossRefPubMed

44.

Brunberg JA, Jacquemont S, Hagerman RJ, Berry-Kravis EM, Grigsby J, Leehey MA et al (2002) Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am J Neuroradiol 23(10):1757–1766PubMed

45.

Renaud M, Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG et al (2015) Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice. J Neurol 262(2):435–442CrossRefPubMed

46.

Finsterer J, Zarrouk Mahjoub S (2012) Leukoencephalopathies in mitochondrial disorders: clinical and MRI findings. J Neuroimaging Off J Am Soc Neuroimaging 22(3):e1–e11CrossRef

47.

Wray SH, Provenzale JM, Johns DR, Thulborn KR (1995) MR of the brain in mitochondrial myopathy. AJNR Am J Neuroradiol 16(5):1167–1173PubMed

48.

Ito S, Shirai W, Asahina M, Hattori T (2008) Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. AJNR Am J Neuroradiol 29(2):392–395CrossRefPubMed

49.

Millar WS, Lignelli A, Hirano M (2004) MRI of five patients with mitochondrial neurogastrointestinal encephalomyopathy. AJR Am J Roentgenol 182(6):1537–1541CrossRefPubMed

50.

Synofzik M, Srulijes K, Godau J, Berg D, Schöls L (2012) Characterizing POLG ataxia: clinics, electrophysiology and imaging. Cerebellum Lond Engl 11(4):1002–1011CrossRef

51.

Sidiropoulos C, Moro E, Lang AE (2013) Extensive intracranial calcifications in a patient with a novel polymerase γ-1 mutation. Neurology 81(2):197–198CrossRefPubMedPubMedCentral

52.

Depienne C, Bugiani M, Dupuits C, Galanaud D, Touitou V, Postma N et al (2013) Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study. Lancet Neurol 12(7):659–668CrossRefPubMed

53.

Di Bella D, Pareyson D, Savoiardo M, Farina L, Ciano C, Caldarazzo S et al (2014) Subclinical leukodystrophy and infertility in a man with a novel homozygous CLCN2 mutation. Neurology 83(13):1217–1218CrossRefPubMed

54.

Inui T, Kawarai T, Fujita K, Kawamura K, Mitsui T, Orlacchio A et al (2013) A new CSF1R mutation presenting with an extensive white matter lesion mimicking primary progressive multiple sclerosis. J Neurol Sci 334(1–2):192–195CrossRefPubMed

55.

Sundal C, Baker M, Karrenbauer V, Gustavsen M, Bedri S, Glaser A et al (2015) Hereditary diffuse leukoencephalopathy with spheroids with phenotype of primary progressive multiple sclerosis. Eur J Neurol 22(2):328–333CrossRefPubMed

56.

Biancheri R, Rossi D, Cassandrini D, Rossi A, Bruno C, Santorelli FM (2010) Cavitating leukoencephalopathy in a child carrying the mitochondrial A8344G mutation. AJNR Am J Neuroradiol 31(9):E78–E79CrossRefPubMed

57.

Mazzeo A, Di Leo R, Toscano A, Muglia M, Patitucci A, Messina C et al (2008) Charcot-Marie-Tooth type X: unusual phenotype of a novel CX32 mutation. Eur J Neurol 15(10):1140–1142CrossRefPubMed

58.

Paulson HL, Garbern JY, Hoban TF, Krajewski KM, Lewis RA, Fischbeck KH et al (2002) Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease. Ann Neurol 52(4):429–434CrossRefPubMed

Titel: Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies
verfasst von: Xavier Ayrignac
Clemence Boutiere
Clarisse Carra-dalliere
Pierre Labauge
Publikationsdatum: 28.04.2016
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 12/2016
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-016-8131-2

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

18.04.2024 | Arterielle Hypertonie | Nachrichten

Update Neurologie

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

Newsletter bestellen

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Posterior fossa involvement in the diagnosis of adult-onset inherited leukoencephalopathies

Abstract

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie

Live-Webinar: Aktuelle Leitlinien bei Herz-Kreislauf-Erkrankungen

Springer Medizin

Abstract

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

Weitere Artikel der Ausgabe 12/2016

National validation and proposed revision of REM sleep behavior disorder screening questionnaire (RBDSQ)

Familial paraganglioma syndrome: a rare cause of carotid artery occlusion

Immunoadsorption or plasma exchange in the treatment of autoimmune encephalitis: a pilot study

Early specialized care after a first unprovoked epileptic seizure

Selective total conjugate horizontal gaze paralysis due to bilateral abducens nucleus lesions

External validation of a 3-step falls prediction model in mild Parkinson’s disease

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Antihypertensiva schützen auch alte Menschen noch vor Demenz

Spinale Muskelatrophie: Neugeborenen-Screening lohnt sich

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Update Neurologie