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Neurological Sciences

Erschienen in:

15.02.2020 | Editorial

Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day

verfasst von: Antonio Federico

Erschienen in: Neurological Sciences | Ausgabe 3/2020

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Excerpt

In the recent years, a great interest has been given to rare diseases, that are over 6000 different pathological conditions, affecting more than 300 million people around the world, more than 70% with genetic pathogenesis, and more than 50% with neurologic or muscle involvement. For years, research projects have been developed, discovering many genes related to the pathogenesis of many disorders and also new therapies. …

Castelnovo V, Caminiti SP, Riva N, Magnani G, Silani V, Perani D (2019) Heterogeneous brain FDG-PET metabolic patterns in patients with C9orf72 mutation. Neurol Sci 40(3):515–521PubMed

Giovagnoli AR, Tallarita G, Parente A, Del Sole A, Di Fede G (2019) A new neurobehavioral phenotype of familial Creutzfeldt-Jakob disease: impaired theory of mind. Neurol Sci 40(5):1073–1075PubMed

Garg D, Pedapati R, Nakra T, Singh RK, Prabhakar A, Dash D, Bhatia R, Tripathi M (2019) Langerhans cell histiocytosis presenting as a rapidly evolving fronto-temporal syndrome. Neurol Sci 40(5):1055–1058PubMed

Peric S, Bozovic I, Nisic T, Banovic M, Vujnic M, Svabic T, Pesovic J, Brankovic M, Basta I, Jankovic M, Savic-Pavicevic D, Rakocevic-Stojanovic V (2019) Body composition analysis in patients with myotonic dystrophy types 1 and 2. Neurol Sci 40(5):1035–1040PubMed

Villa SM, Rufa A, Malandrini A, Cerase A, Rosini F, Arrigucci U, Federico A (2019) Cerebellar ataxia associated with anti-glutamic acid decarboxylase antibodies: a case report. Neurol Sci 40(6):1303–1306PubMed

Cazzato D, Dalla Bella E, Saveri P, Taroni F, Marucci G, Lauria G (2019) Late-onset and fast progressive neuropathy and cardiomyopathy in Val32Ala transthyretin gene mutation. Neurol Sci 40(6):1267–1269PubMed

Karti DT, Karti O, Celebisoy N (2019) A rare cause of Horner’s syndrome: cervicothoracic spinal root cysts. Neurol Sci 40(6):1311–1314PubMed

Niu J, Wang J, Wang D, He X, Li Z, Li X, Su F, Jia W (2019) Clinical, radiological features and surgical strategies for 23 NF1 patients with intraorbital meningoencephalocele. Neurol Sci 40(6):1217–1225PubMed

Santoro C, Palladino F, Bernardo P, Cinalli G, Mirone G, Giugliano T, Piluso G, Perrotta S (2019) Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2. Neurol Sci 40(7):1475–1476PubMed

10.

Ginanneschi F, Rubegni A, Moro F, Volpi N, Santorelli FM, Rossi A (2019) SCN11A variant as possible pain generator in sensory axonal neuropathy. Neurol Sci 40(6):1295–1297PubMed

11.

Gragnaniello V, Fecarotta S, Pecoraro A, Tarallo A, Catzola A, Spadaro G, Parenti G, Della Casa R (2019) Desensitization of two young patients with infantile-onset Pompe disease and severe reactions to alglucosidase alfa. Neurol Sci 40(7):1453–1455PubMed

12.

Lieto M, Roca A, Santorelli FM, Fico T, De Michele G, Bellofatto M, Saccà F, De Michele G, Filla A (2019) Degenerative and acquired sporadic adult onset ataxia. Neurol Sci 40(7):1335–1342PubMed

13.

Teive HAG, Camargo CHF, Munhoz RP (2019) Sporadic adult-onset spinocerebellar ataxias : reply: degenerative and acquired sporadic adult-onset ataxiahttps. Neurol Sci 40(12):2657–2658. https://doi.org/10.1007/s10072-019-03856-wCrossRefPubMed

14.

Lieto M, Roca A, Bruzzese D, Antenora A, Alfieri G, Saccà F, Bellofatto M, Bilo L, Barbato S, De Michele G, Filla A (2019) Longitudinal study of a cohort of MSA-C patients in South Italy: survival and clinical features. Neurol Sci 40(10):2105–2109PubMed

15.

Pessa ME, Verriello L, Valente M, Gigli GL (2019) A rare case of pure sensitive parsonage-turner syndrome. Neurol Sci 40(7):1499–1501PubMed

16.

Nesti C, Rubegni A, Tolomeo D, Baldacci J, Cassandrini D, D'Amore F, Santorelli FM (2019) Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation. Neurol Sci 40(8):1705–1708PubMed

17.

Escorcio-Bezerra ML, Manzano GM, Bichuetti DB, Nunes KF, Correa DSA, Oliveira ASB, Baeta AM (2019) Tonic pupils: an unusual autonomic involvement in chronic inflammatory demyelinating polyneuropathy (CIDP). Neurol Sci 40(8):1725–1727PubMed

18.

Kobayashi M (2019) Ischemic stroke due to sarcoidosis: the arterial wall enhancement on magnetic resonance imaging. Neurol Sci 40(9):1967–1970PubMed

19.

Qin L, Shu L, Zhong J, Pan H, Guo J, Sun Q, Yan X, Tang B, Xu Q (2019) Association of HIF1A and parkinson’s disease in a Han Chinese population demonstrated by molecular inversion probe analysis. Neurol Sci 40(9):1927–1931PubMed

20.

Yin Y, Su X, Pan L, Li C (2019) BDNF Val66Met polymorphism and cognitive impairment in Parkinson's disease-a meta-analysis. Neurol Sci 40(9):1901–1907PubMed

21.

Donzuso G, Mostile G, Nicoletti A, Zappia M (2019) Basal ganglia calcifications (Fahr's syndrome): related conditions and clinical features. Neurol Sci 40(11):2251–2263PubMedPubMedCentral

22.

Malaquias MJ, Fineza I, Loureiro L, Cardoso L, Alonso I, Magalhães M (2019) GNAO1 mutation presenting as dyskinetic cerebral palsy. Neurol Sci 40(10):2213–2216PubMed

23.

Liu X, Liu X, Du Y, Lin Y, Li C, Liu C, Lu L (2019) A case of recurrent vomiting:extending the spectrum of neuronal intranuclear inclusion disease. Neurol Sci 40(12):2661–2664PubMed

24.

Dejsuphong D, Taweewongsounton A, Khemthong P, Chitphuk S, Stitchantrakul W, Sritara P, Tunteeratum A, Sura T (2019) Carrier frequency of spinal muscular atrophy in Thailand. Neurol Sci 40(8):1729–1732PubMed

25.

Savcun Demirci C, Onursal Kılınç Ö, Yıldız Tİ, Ayvat E, Ayvat F, Turgut E, Düzgün İ, Aksu Yıldırım S, Kılınç M (2019) Effect of taping on scapular kinematics of patients with facioscapulohumeral muscular dystrophy. Neurol Sci 40(8):1583–1588PubMed

26.

Jung JH, Oh EH, Shin JH, Kim DS, Choi SY, Choi KD, Choi JH (2019) Atypical clinical manifestations of miller fisher syndrome. Neurol Sci 40(1):67–73PubMed

27.

Dardiotis E, Karampinis E, Siokas V, Aloizou AM, Rikos D, Ralli S, Papadimitriou D, Bogdanos DP, Hadjigeorgiou GM (2019) ERCC6L2 rs591486 polymorphism and risk for amyotrophic lateral sclerosis in Greek population. Neurol Sci 40(6):1237–1244PubMed

28.

Luo L, Song Z, Li X, Huiwang ZY, Qinwang M, He J (2019) Efficacy and safety of edaravone in treatment of amyotrophic lateral sclerosis-a systematic review and meta-analysis. Neurol Sci 40(2):235–241PubMed

29.

Sivaramakrishnan A, Madhavan S (2019) Recumbent stepping aerobic exercise in amyotrophic lateral sclerosis: a pilot study. Neurol Sci 40(5):971–978PubMed

30.

Amin Lari A, Ghavanini AA, Bokaee HR (2019) A review of electrophysiological studies of lower motor neuron involvement in amyotrophic lateral sclerosis. Neurol Sci 40(6):1125–1136PubMed

31.

Hancevic M, Bilic H, Sitas B, Pavlisa G, Borovecki F, Munitic I, Bilic E (2019) Attenuation of ALS progression during pregnancy-lessons to be learned or just a coincidence? Neurol Sci 40(6):1275–1278PubMed

32.

Verde F, Tiloca C, Morelli C, Doretti A, Poletti B, Maderna L, Messina S, Gentilini D, Fogh I, Ratti A, Silani V, Ticozzi N (2019) PON1 is a disease modifier gene in amyotrophic lateral sclerosis: association of the Q192R polymorphism with bulbar onset and reduced survival. Neurol Sci 40(7):1469–1473PubMed

33.

Sprovieri T, Ungaro C, Perrone B, Naimo GD, Spataro R, Cavallaro S, La Bella V, Conforti FL (2019) A novel S379A TARDBP mutation associated to late-onset sporadic ALS. Neurol Sci 40(10):2111–2118PubMed

34.

Yang B, Jiang H, Wang F, Li S, Wu C, Bao J, Zhu Y, Xu Z, Liu B, Ren H, Yang X (2019) UNC13A variant rs12608932 is associated with increased risk of amyotrophic lateral sclerosis and reduced patient survival: a meta-analysis. Neurol Sci 40(11):2293–2302PubMed

35.

Park JS, Do YW, Park JM, Seok HY, Park D (2019) Under-recognized primary spontaneous pneumothorax in ALS: a multicenter retrospective study. Neurol Sci 40(12):2509–2514PubMed

36.

Corrado L, Brunetti M, Di Pierro A, Barberis M, Croce R, Bersano E, De Marchi F, Zuccalà M, Barizzone N, Calvo A, Moglia C, Mazzini L, Chiò A, D'Alfonso S (2019) Analysis of the GCG repeat length in NIPA1 gene in C9orf72-mediated ALS in a large Italian ALS cohort. Neurol Sci 40(12):2537–2540PubMed

37.

Santus G, Faletti S, Grandis D (2019) Orthostatic tremor and behavioral frontotemporal dementia: a case report with 7 years of follow-up. Neurol Sci 40(11):2415–2417PubMed

38.

Koh K, Tsuchiya M, Nagasaka T, Shindo K, Takiyama Y (2019) Decreasing (123)I-ioflupane SPECT accumulation and (123)I-MIBG myocardial scintigraphy uptake in a patient with a novel homozygous mutation in the ZFYVE26 gene. Neurol Sci 40(2):429–431PubMed

39.

Abdulkareem AA, Abulnaja KO, Jan MM, Karim S, Rasool M, Ansari SA, Chaudhari AG, Al-Qahtani MH, Naseer MI (2019) A novel homozygous nonsense mutation in CCDC88A gene cause PEHO-like syndrome in consanguineous Saudi family. Neurol Sci 40(2):299–303PubMed

40.

Zhang M, Shi S, Zhang H, Liu L, Wu L, Xiao B, Liu W (2019) A novel missense mutation in the ABCD1 gene of a Chinese boy diagnosed with X-linked adrenoleukodystrophy: case report. Neurol Sci 40(5):1093PubMed

41.

Genç F, Kara M, Ünal Y, Uygur Küçükseymen E, Biçer Gömceli Y, Kaynar T, Tosun K, Kutlu G (2019) Methylation of cation-chloride cotransporters NKCC1 and KCC2 in patients with juvenile myoclonic epilepsy. Neurol Sci 40(5):1007–1013PubMed

42.

Kaur U, Das P, Gambhir IS, Chakrabarti SS (2019) L-type calcium channel blockers and a symptom complex mimicking de Melo-Souza's syndrome. Neurol Sci 40(5):1077–1080PubMed

43.

Oliva M, Capaldo G, D'Amico A, Colavito D, Elefante A, Straccia G, Ugga L, Puoti G (2019) A novel SLC20A2 gene mutation causing primary familial brain calcification in an Ukrainian patient. Neurol Sci 40(6):1283–1285PubMed

44.

Du Q, Chen H, Shi Z, Zhang Y, Wang J, Zhou H (2019) A novel mutation in the CSF1R gene causes hereditary diffuse leukoencephalopathy with axonal spheroids. Neurol Sci 40(6):1287–1290PubMed

45.

Liu Z, Ye X, Qiao P, Luo W, Wu Y, He Y, Gao P (2019) G327E mutation in SCN9A gene causes idiopathic focal epilepsy with Rolandic spikes: a case report of twin sisters. Neurol Sci 40(7):1457–1460PubMed

46.

Catania A, Peverelli L, Tabano S, Ghezzi D, Lamperti C (2019) DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). Neurol Sci 40(9):1963–1966PubMed

47.

Ferrante E, Mosca L, Erminio C, Penco S, Cavallari U (2019) Identification of a novel NOTCH3 mutation in an Italian family affected by a mild form of CADASIL. Neurol Sci 40(8):1751–1753PubMed

48.

Wu P, Dong J, Cheng N, Yang R, Han Y, Han Y (2019) Inflammatory cytokines expression in Wilson’s disease. Neurol Sci 40(5):1059–1066PubMed

49.

Smolinski L, Litwin T, Redzia-Ogrodnik B, Dziezyc K, Kurkowska-Jastrzebska I, Czlonkowska A (2019) Brain volume is related to neurological impairment and to copper overload in Wilson's disease. Neurol Sci 40(10):2089–2095PubMedPubMedCentral

50.

Rucco R, Liparoti M, Jacini F, Baselice F, Antenora A, De Michele G, Criscuolo C, Vettoliere A, Mandolesi L, Sorrentino G, Sorrentino P (2019) Mutations in the SPAST gene causing hereditary spastic paraplegia are related to global topological alterations in brain functional networks. Neurol Sci 40(5):979–984PubMedPubMedCentral

51.

Wang Y, Hao L, Li H, Cleary JD, Tomac MP, Thapa A, Guo X, Zeng D, Wang H, McRae M, Jastrzemski O, Smith-Fassler AM, Xu Y, Xia G (2019) Abnormal nuclear aggregation and myotube degeneration in myotonic dystrophy type 1. Neurol Sci 40(6):1255–1265PubMed

52.

Alpaydın Baslo S, Erdoğan M, Balçık ZE, Öztürk O, Ataklı D (2019) Is Hirayama a Gq1b disease? Neurol Sci 40(8):1743–1747PubMed

53.

Bhoi SK, Jha M, Naik S, Palo GD (2019) Knuckle pigmentation, peripheral neuropathy, madness and abnormal movement: is it B(12) deficiency? Neurol Sci 40(11):2399–2401PubMed

54.

Pianese L, Fortunato A, Silvestri S, Solano FG, Burlina A, Burlina AP, Ragno M (2019) Maternal germline mosaicism in Fabry disease. Neurol Sci 40(6):1279–1281PubMed

55.

Sansone VA, Albamonte E, Salmin F, Casiraghi J, Pirola A, Bettinelli M, Rao F, Mancini L, Tovaglieri N, Fedeli F, Stoia P, Heinen M, Cozzi V, Carraro E, Lunetta C, Di Bari A, Mercuri E (2019) Italian EAP working group. Intrathecal nusinersen treatment for SMA in a dedicated neuromuscular clinic: an example of multidisciplinary and integrated care. Neurol Sci 40(2):327–332PubMed

56.

Levy M (2019) Ten years of iron chelation in a patient with superficial siderosis. Neurol Sci 40(9):1947–1949PubMedPubMedCentral

57.

Maggi L, Bernasconi P, D'Amico A, Brugnoni R, Fiorillo C, Garibaldi M, Astrea G, Bruno C, Santorelli FM, Liguori R, Antonini G, Evoli A, Bertini E, Rodolico C, Mantegazza R (2019) Italian recommendations for diagnosis and management of congenital myasthenic syndromes. Neurol Sci 40(3):457–468PubMed

58.

Basantsova NY, Starshinova AA, Dori A, Zinchenko YS, Yablonskiy PK, Shoenfeld Y (2019) Small-fiber neuropathy definition, diagnosis, and treatment. Neurol Sci 40(7):1343–1350PubMed

59.

Picillo M, Cuoco S, Amboni M, Bonifacio FP, Bruschi F, Carotenuto I, De Micco R, De Rosa A, Del Prete E, Di Biasio F, Elifani F, Erro R, Fabbri M, Falla M, Franco G, Frosini D, Galantucci S, Lazzeri G, Magistrelli L, Malaguti MC, Milner AV, Minafra B, Olivola E, Pilotto A, Rascunà C, Rizzetti MC, Schirinzi T, BorroniB CR, Di Fonzo A, Marchese R, Mercuri NB, Modugno N, Nicoletti A, Padovani A, Santangelo G, Stefani A, Tessitore A, Volontè MA, Zangaglia R, Zappia M, Zibetti M, Barone P (2019) Validation of the Italian version of the PSP quality of life questionnaire. Neurol Sci 40(12):2587–2594PubMed

60.

Vita G, Vita GL, Stancanelli C, Gentile L, Russo M, Mazzeo A (2019) Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 1:peripheral neuropathies. Neurol Sci 40(4):661–669PubMed

61.

Vita G, Vita GL, Musumeci O, Rodolico C, Messina S (2019) Genetic neuromuscular disorders: living the era of a therapeutic revolution. Part 2: diseases of motor neuron and skeletal muscle. Neurol Sci 40(4):671–681PubMed

Titel: Rare Neurologic Diseases and Neurological Sciences: a report for the celebration of the 2020 Rare Diseases Day
verfasst von: Antonio Federico
Publikationsdatum: 15.02.2020
Verlag: Springer International Publishing
Erschienen in: Neurological Sciences / Ausgabe 3/2020
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI: https://doi.org/10.1007/s10072-020-04287-8

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