ISSN:
1432-1920
Schlagwort(e):
Key words Spinocerebellar ataxia type 6
;
Cerebellar cortical atrophy
;
Magnetic resonance imaging
Quelle:
Springer Online Journal Archives 1860-2000
Thema:
Medizin
Notizen:
Abstract We describe the MRI findings in three Japanese patients with spinocerebellar ataxia type 6 (SCA6) in which a polymorphic CAG repeat was identified in the gene encoding the α1A voltage-dependent P/Q-type Ca2+ channel subunit (CACNL1A4). All showed slowly progressive cerebellar ataxia and mild pyramidal signs. Neuroradiologically, they had moderate cerebellar atrophy, most prominently in the superior vermis, whereas the brain stem appeared to be spared. No abnormal signal intensity was identified.
Materialart:
Digitale Medien
URL:
http://dx.doi.org/10.1007/s002340050571
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