CareLit Fachartikel
Expression profiling of peripheral blood cells in patients with different subtypes of spinocerebellar ataxias
M Walter, H Stappert, L Schöls, O Riess, M Bonin · Aktuelle Neurologie · 2005 · Heft 10
Dokument
965104
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Jahr
2005
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Zusammenfassung
Spinocerebellar ataxias (SCAs) are dominant, late onset hereditary disorders characterized by a progressive ataxia that is variably associated with other neurological symptoms. The clinical hallmarks result from a progressive degenerative process that mostly affects the cerebellum, brainstem and spinal cord. To date at least 25 different loci are associated with SCAs and related diseases. A large number of SCAs are caused by expanded CAG repeats within protein coding regions leading to polyglutamine tracts. Early detection of these disorders would enable both more effective diagnosis and treatment as well as a b…
Schlagworte
Blood
Diagnosis
Ataxia
After
Blood Cells
Aktuelle Neurologie
