Spinocerebellar ataxia type 31

Neuromyelitis Optica Spectrum Disorder Coinciding with Spinocerebellar Ataxia Type 31

We report the unusual case of a 63-year-old man with spinocerebellar ataxia (SCA) type 31 who developed neuromyelitis optica spectrum disorder (NMOSD) 14 years after the onset of cerebellar symptoms. In addition to cerebellar atrophy, magnetic resonance imaging showed multiple high-intensity areas in the brain and a long thoracic cord lesion from Th1/2 to Th11. The combination of NMOSD and SCA3...

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...

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...

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...

[Spinocerebellar ataxia type 8(SCA 8)].