The ataxias are a complex group of diseases with both environmental and genetic causes. Among the autosomal dominant forms of ataxia the genes for two, spinocerebellar ataxia type 1 (SCA1) and Machado...
The Ataxia Functional Composite Scale (AFCS) may provide a sensitive and reproducible assessment of treatment responses in studies of the spinocerebellar ataxias (SCA). We previously assessed the effe...
The patient was a 72-year-old man who had a history of subtotal gastrectomy for gastric ulcer at age of 37 years. He had no familial history of hereditary disorders. In 1980 he noticed mild ataxic gai...
BACKGROUND: Although mentioned in most series, "pure" autosomal dominant cerebellar ataxias, except spinocerebellar ataxia type 6, are difficult to differentiate on clinical grounds. OBJECTIVE: To des...
We report 14 patients with a slowly progressive syndrome featuring ataxia, choreoathetosis, and ocular motor apraxia in both the horizontal and vertical planes. Although the neurological signs were in...
The SCA6 mutation, a small expansion of a CAG repeat in a calcium channel gene CACNA1A, was identified in three pedigrees. Point mutations in other parts of the gene CACNA1A were excluded and new clin...