SCA db: spinocerebellar ataxia candidate gene database

SCA db: spinocerebellar ataxia candidate gene database

UNLABELLED The positional candidate gene approach accelerates the discovery of genes involved in disease. However, the properties of such disease genes are very diverse and the sample size of known disease genes is too small and does not warrant success by the use of a machine-learning approach. A user-defined scoring system may thus help to determine the priority of candidate genes. Spinocereb...

[Spinocerebellar ataxia type 8(SCA 8)].

Kinase Mutations in Dominant Form of Spinocerebellar Ataxia (SCA)

To date, 31 genes associated with different forms of SCA have been identified, but the cellular and molecular bases for this pathology remain poorly defined. The autosomal dominant cerebellar ataxias (ADCA) were thought to be exclusively due to expansions of coding CAG repeats, as in the genes that underlie SCA1, SCA2, SCA3, SCA6, SCA7, SCA17, and DRPLA (dentatorubropallidoluysian atrophy)—the ...

Electronystagmography findings in spinocerebellar ataxia type 3 ( SCA 3 ) and type 2 ( SCA 2 ) Bianca

Objective: To describe the alterations observed in electronystagmography (ENG) of patients with spinocerebellar ataxia (SCA) types 2 and 3. Method: Sixteen patients were studied and the following procedures were carried out: anamnesis, otorhinolaryngological and vestibular evaluations. Results: The clinical findings in the entire group of patients were: gait disturbances (93.75%), dysarthria (4...

A new variable phenotype in spinocerebellar ataxia 27 (SCA 27) caused by a deletion in the FGF14 gene.

We present a young boy whose mild ataxia and abnormal eye movements repeatedly deteriorated with fever, making him unable to sit or walk during fever episodes. SNP-array analysis identified a 202 kb deletion in chromosome 13q33.1 containing the fibroblast growth factor (FGF)14 gene, which is associated with spinocerebellar ataxia (SCA) 27. This 13q deletion was also present in the proband's mot...