Clinicopathologic investigation of a family with expanded SCA8 CTA/CTG repeats.
Neurology
; 67(8): 1479-81, 2006 Oct 24.
Article
em En
| MEDLINE
| ID: mdl-17060579
ABSTRACT
We investigated a family manifesting progressive ataxia, with expanded SCA8 CTA/CTG repeats. Neuropathologically, degeneration of Purkinje, inferior olivary, and nigral neurons and periaqueductal gliosis were evident. The sites of Purkinje cell loss were occupied by fibrillary accumulations. The remaining Purkinje cells showed somatic sprouts, and intracytoplasmic 1C2-positive granular structures were recognizable. This characteristic distribution of neurodegeneration and Purkinje cell cytopathology were distinct from those of other hereditary spinocerebellar ataxias previously reported.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Expansão das Repetições de Trinucleotídeos
/
Ataxias Espinocerebelares
/
Proteínas do Tecido Nervoso
Limite:
Adult
/
Humans
/
Male
Idioma:
En
Revista:
Neurology
Ano de publicação:
2006
Tipo de documento:
Article