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01-10-2012 | Medical Progress in the Journal of Neurology

Clinical neurogenetics: recent advances

Authors: Davide Pareyson, Ettore Salsano

Published in: Journal of Neurology | Issue 10/2012

Abstract

In this review, progress in clinical neurogenetics research published in the Journal of Neurology during the past year is summarized.

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McCorquodale DS 3rd, Montenegro G, Peguero A, Carlson N, Speziani F, Price J, Taylor SW, Melanson M, Vance JM, Züchner S (2011) Mutation screening of mitofusin 2 in Charcot–Marie–Tooth disease type 2. J Neurol 258:1234–1239PubMedCrossRef

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Berciano J, Gallardo E, García A, Pelayo-Negro AL, Infante J, Combarros O (2011) New insights into the pathophysiology of pes cavus in Charcot–Marie–Tooth disease type 1A duplication. J Neurol 258:1594–1602PubMedCrossRef

Pacheco-Cuellar G, González-Huerta LM, Valdés-Miranda JM, Peláez-González H, Zenteno-Bacheron S, Cazarin-Barrientos J, Cuevas-Covarrubias SA (2011) Hereditary sensory and autonomic neuropathy II due to novel mutation in the HSN2 gene in Mexican families. J Neurol 258:1890–1892PubMedCrossRef

Salsano E, Tabano S, Sirchia SM, Colapietro P, Castellotti B, Gellera C, Rimoldi M, Pensato V, Mariotti C, Pareyson D, Miozzo M, Uziel G (2012) Preferential expression of mutant ABCD1 allele is common in adrenoleukodystrophy female carriers but unrelated to clinical symptoms. Orphanet J Rare Dis 7:10. doi:10.1186/1750-1172-7-10 PubMedCrossRef

Di Filippo M, Luchetti E, Prontera P, Donti E, Floridi P, Di Gregorio M, Tambasco N, Sarchielli P, Calabresi P (2011) Heterozygous X-linked adrenoleukodystrophy-associated myelopathy mimicking primary progressive multiple sclerosis. J Neurol 258:323–324PubMedCrossRef

10.

Brenner M, Johnson AB, Boespflug-Tanguy O, Rodriguez D, Goldman JE, Messing A (2001) Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease. Nat Genet 27:117–120PubMedCrossRef

11.

Pareyson D, Fancellu R, Mariotti C, Romano S, Salmaggi A, Carella F, Girotti F, Gattellaro G, Carriero MR, Farina L, Ceccherini I, Savoiardo M (2008) Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature. Brain 131:2321–2331PubMedCrossRef

12.

Farina L, Pareyson D, Minati L, Ceccherini I, Chiapparini L, Romano S, Gambaro P, Fancellu R, Savoiardo M (2008) Can MR imaging diagnose adult-onset Alexander disease? AJNR Am J Neuroradiol 29:1190–1196PubMedCrossRef

13.

Balbi P, Salvini S, Fundarò C, Frazzitta G, Maestri R, Mosah D, Uggetti C, Sechi G (2010) The clinical spectrum of late-onset Alexander disease: a systematic literature review. J Neurol 257:1955–1962PubMedCrossRef

14.

Yoshida T, Sasaki M, Yoshida M, Namekawa M, Okamoto Y, Tsujino S, Sasayama H, Mizuta I, Nakagawa M, Alexander Disease Study Group in Japan (2011) Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis. J Neurol 258:1998–2008PubMedCrossRef

15.

Tschampa HJ, Greschus S, Vinahl M, Urbach H, Mueller MM, Gerding WM (2011) MS-like presentation of Alexander disease with multifocal lesions and oligoclonal bands. J Neurol 258:935–937PubMedCrossRef

16.

Schmidt S, Wattjes MP, Gerding WM, van der Knaap M (2011) Late-onset Alexander’s disease presenting as cerebellar ataxia associated with a novel mutation in the GFAP gene. J Neurol 258:938–940PubMedCrossRef

17.

Edener U, Bernard V, Hellenbroich Y, Gillessen-Kaesbach G, Zühlke C (2011) Two dominantly inherited ataxias linked to chromosome 16q22.1: SCA4 and SCA31 are not allelic. J Neurol 258:1223–1227PubMedCrossRef

18.

H’mida-Ben Brahim D, M’zahem A, Assoum M, Bouhlal Y, Fattori F, Anheim M, Ali-Pacha L, Ferrat F, Chaouch M, Lagier-Tourenne C, Drouot N, Thibaut C, Benhassine T, Sifi Y, Stoppa-Lyonnet D, N’Guyen K, Poujet J, Hamri A, Hentati F, Amouri R, Santorelli FM, Tazir M, Koenig M (2011) Molecular diagnosis of known recessive ataxias by homozygosity mapping with SNP arrays. J Neurol 258:56–67PubMedCrossRef

19.

Hildebrandt F, Heeringa SF, Rüschendorf F, Attanasio M, Nürnberg G, Becker C, Seelow D, Huebner N, Chernin G, Vlangos CN, Zhou W, O’Toole JF, Hoskins BE, Wolf MT, Hinkes BG, Chaib H, Ashraf S, Schoeb DS, Ovunc B, Allen SJ, Vega-Warner V, Wise E, Harville HM, Lyons RH, Washburn J, Macdonald J, Nürnberg P, Otto EA (2009) A systematic approach to mapping recessive disease genes in individuals from outbred populations. PLoS Genet 5:e1000353PubMedCrossRef

20.

Orlacchio A, Montieri P, Babalini C, Gaudiello F, Bernardi G, Kawarai T (2011) Late-onset hereditary spastic paraplegia with thin corpus callosum caused by a new SPG3A mutation. J Neurol 258:1361–1363PubMedCrossRef

21.

Stromillo ML, Malandrini A, Dotti MT, Battaglini M, Borgogni F, Tessa A, Storti E, Denora PS, Santorelli FM, Gaudiano C, Battisti C, Federico A, De Stefano N (2011) Structural and metabolic damage in brains of patients with SPG11-related spastic paraplegia as detected by quantitative MRI. J Neurol 258:2240–2247PubMedCrossRef

22.

Mignarri A, Rossi S, Ballerini M, Gallus GN, Del Puppo M, Galluzzi P, Federico A, Dotti MT (2011) Clinical relevance and neurophysiological correlates of spasticity in cerebrotendinous xanthomatosis. J Neurol 258:783–790PubMedCrossRef

23.

Ghanim M, Guillot-Noel L, Pasquier F, Jornea L, Deramecourt V, Dubois B, Le Ber I, Brice A, French Research Network on FTD and FTD/MND (2010) CHMP2B mutations are rare in French families with frontotemporal lobar degeneration. J Neurol 257:2032–2036PubMedCrossRef

24.

Gelfand JM, Duncan JL, Racine CA, Gillum LA, Chin CT, Zhang Y, Zhang Q, Wong LJ, Roorda A, Green AJ (2011) Heterogeneous patterns of tissue injury in NARP syndrome. J Neurol 258:440–448PubMedCrossRef

25.

Salsano E, Giovagnoli AR, Morandi L, Maccagnano C, Lamantea E, Marchesi C, Zeviani M, Pareyson D (2011) Mitochondrial dementia: a sporadic case of progressive cognitive and behavioral decline with hearing loss due to the rare m.3291T>C MELAS mutation. J Neurol Sci 300:165–168PubMedCrossRef

26.

Bour A, Nicolai J, van Schrojenstein Lantman-de Valk H, van Kranen-Mastenbroek V (2011) Photomyogenic response in Niemann–Pick type C: a case report. J Neurol 258:521–523PubMedCrossRef

27.

Reilich P, Horvath R, Krause S, Schramm N, Turnbull DM, Trenell M, Hollingsworth KG, Gorman GS, Hans VH, Reimann J, MacMillan A, Turner L, Schollen A, Witte G, Czermin B, Holinski-Feder E, Walter MC, Schoser B, Lochmüller H (2011) The phenotypic spectrum of neutral lipid storage myopathy due to mutations in the PNPLA2 gene. J Neurol 258:1987–1997PubMedCrossRef

28.

Ali Pervaiz M, Patterson MC, Struys EA, Salomons GS, Jakobs C, Oglesbee D, Kirmani S (2011) Co-morbidity of Sanfilippo syndrome type C and D-2-hydroxyglutaric aciduria. J Neurol 258:1564–1565PubMedCrossRef

Title: Clinical neurogenetics: recent advances
Authors: Davide Pareyson
Ettore Salsano
Publication date: 01-10-2012
Publisher: Springer-Verlag
Published in: Journal of Neurology / Issue 10/2012
Print ISSN: 0340-5354
Electronic ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-012-6602-7

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Springer Medicine

Clinical neurogenetics: recent advances

Abstract

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Springer Medicine

Abstract

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