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Pubmed ID :24566826
Publication Date : //

Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia.


The autosomal dominant spinocerebellar ataxias (SCAs) are a complex group of neurodegenerative disorders with significant genetic heterogeneity. Despite the identification of 20 SCA genes, the cause of the disorder in a significant proportion of families with SCA remains unexplained. In 1972, a French-Canadian family segregating a combination of SCA and erythrokeratodermia variabilis (EKV) in an autosomal dominant fashion was described.

Authors : Cadieux-Dion Maxime , Turcotte-Gauthier Maude , Noreau Anne , Martin Caroline , Meloche Caroline , Gravel Micheline , Drouin Christian Allen , Rouleau Guy A , Nguyen Dang Khoa , Cossette Patrick ,

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Catalog number Product name Quantity
2500 AUTOSOMAL DOMINANT SPINOCEREBELLAR ATAXIA GENE, BLOOD 1
SCAR3 SCAR3 Gene spinocerebellar ataxia, autosomal recessive 3
SCAR2 SCAR2 Gene spinocerebellar ataxia, autosomal recessive 2
SCAR5 SCAR5 Gene spinocerebellar ataxia, autosomal recessive 5
SCAR7 SCAR7 Gene spinocerebellar ataxia, autosomal recessive 7
SAX1 SAX1 Gene spastic ataxia 1 (autosomal dominant)
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8299 SPINOCEREBELLAR ATAXIA (SCA_1) GENE, BLOOD 1
SCA18 SCA18 Gene spinocerebellar ataxia 18 (sensory with neurogenic muscular atrophy)
SCASI SCASI Gene spinocerebellar ataxia with saccadic intrusions
28-526 This gene encodes for a Connexin 32 protein. A large Charcot-Marie-Tooth disease family has been identified with a novel mutation in the Cx32 P2 promoter region at position -526bp. Cx32 mutants that a 0.1 mg
SCAX3 SCAX3 Gene spinocerebellar ataxia, X-linked 3
SCAX4 SCAX4 Gene spinocerebellar ataxia, X-linked 4
SCAX2 SCAX2 Gene spinocerebellar ataxia, X-linked 2
SCAX1 SCAX1 Gene spinocerebellar ataxia, X-linked 1
RP1 RP1 Gene retinitis pigmentosa 1 (autosomal dominant)
RP9 RP9 Gene retinitis pigmentosa 9 (autosomal dominant)
DFNA27 DFNA21 Gene deafness, autosomal dominant 21
DFNA46 DFNA43 Gene deafness, autosomal dominant 43
DFNA5 DFNA47 Gene deafness, autosomal dominant 47
E2649h Human Deafness, Autosomal Dominant 5 ELISA Kit 96T
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