Autosomal dominant cerebellar ataxia type 1 (ADCA1) is a clinical and genetic
heterogeneous neurodegenerative disorder which leads to progressive cerebellar ataxia …

Spinocerebellar ataxia type 1 (SCA1) is an autosomal dominant, neurodegenerative
disorder characterized by the progressive loss of neurons from the cerebellum, brain stem …

CAG repeat expansions with loss of CAT interruptions in the coding region of the ataxin-1
gene are associated with spinocerebellar ataxia type 1 (SCA1). For molecular genetic …

The autosomal dominant late onset spinocerebellar ataxias (SCAs) are genetically
heterogeneous. Three genes, SCA1 on 6p, SCA2 on 12q and MJD1 on 14q, have been …

Autosomal dominant cerebellar ataxias (ADCA) are a clinically heterogeneous group of
neurodegenerative disorders caused by unstable CAG repeat expansions encoding …

We present a linkage study in a four-generation autosomal dominant cerebellar ataxia
(ADCA) family of Dutch ancestry. The family shows a clinically and genetically distinct form …

Background: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant cerebellar
ataxia (ADCA) for which the disease-causing mutation has recently been characterized as …

A Siberian kindred with spinocerebellar ataxia genetically linked to the SCA1 locus on
chromosome 6p has been screened for the CAG triplet expansion within the coding region …

The gene for spinocerebellar ataxia 7 (SCA7) includes a transcribed, translated CAG tract
that is expanded in SCA7 patients. We have determined expansions in 73 individuals from …

The effect of CAT trinucleotide interruptions in the CAG trinucleotide repeats of the SCA1
gene on the age at onset of spinocerebellar ataxia type 1 (SCA1) was investigated. The …