Association of spinocerebellar ataxia type 3 and spinocerebellar ataxia type 8 microsatellite expansions: Genetic counseling implications

[Spinocerebellar ataxia type 8(SCA 8)].

Spinocerebellar ataxia type 6.

We report a 39-year-old woman with spinocerebellar ataxia type 6. She presented with ataxia and a 3-year history of progressive ataxia and recurrent falls. There was no relevant family history. Genetic tests revealed an expanded allele of 24 CAG repeats at the spinocerebellar ataxia type 6 locus. This appears to be the first case reported in Hong Kong. As genetic testing becomes more widely ava...

Cognitive impairment in spinocerebellar ataxia type 8.

OBJECTIVES Only a limited number of studies have investigated the cognitive performances of spinocerebellar ataxia (SCA) patients. In none of the SCA8 studies have the neuropsychological test performances been the primary measures. The objective of the current study was to investigate the characteristics of cognitive deficits in SCA8. METHODS Ten SCA8 patients and ten case-by-case matched con...

Machado-Joseph disease/spinocerebellar ataxia type 3.

Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), may be the most common dominantly inherited ataxia in the world. Here I will review historical, clinical, neuropathological, genetic, and pathogenic features of MJD, and finish with a brief discussion of present, and possible future, treatment for this currently incurable disorder. Like many other dominantly inher...

5 Spinocerebellar Ataxia Type 2

The autosomal dominant cerebellar ataxias (ADCA) are a clinically, pathologically and genetically heterogeneous group of neurodegenerative disorders caused by degeneration of cerebellum and its afferent and efferent connections. The degenerative process may additionally involves the pontomedullar systems, pyramidal tracts, basal ganglia, cerebral cortex, peripheral nerves (ADCA I) and the retin...