Mutations in the FGF14 gene are not a major cause of spinocerebellar ataxia in Caucasians

Neurology

Volumn 63, Issue 5, 2004, Pages 936-

  Stevanin, G ^a   Durr, A ^a   Dussert, C ^a   Penet, C ^a   Brice, A ^a  

^a PITIÉ SALPÊTRIÈRE HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

FIBROBLAST GROWTH FACTOR 14; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; AGED; ARTICLE; CAUCASIAN; DNA POLYMORPHISM; EXON; FGF14 GENE; FRANCE; GENE; GENE MUTATION; HUMAN; MAJOR CLINICAL STUDY; MISSENSE MUTATION; MUTATION RATE; POLYMERASE CHAIN REACTION; PRIORITY JOURNAL; SPINOCEREBELLAR DEGENERATION;

EID: 4644349432     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/01.WNL.0000137020.30604.1E     Document Type: Article

References (4)

1. Schöls L, Bauer P, Schmidt T, Schulte T, Riess O. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 2004;3:291-304.
2. Knight MA, McKinlay Gardner RJ, Bahlo M, et al. Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20. Brain 2004;127:1172-1181.
3. Chen DH, Brkanac Z, Verlinde CL, et al. Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant non-episodic cerebellar ataxia. Am J Hum Genet 2003;72:839-849.
4. van Swieten JC, Brusse E, de Graaf BM, et al. A mutation in the fibroblast growth factor 14 gene is associated with autosomal dominant cerebellar ataxia. Am J Hum Genet 2003;72:191-199.