Format

Send to

Choose Destination
Neurosci Lett. 2005 Jun 24;381(3):247-51. Epub 2005 Mar 17.

Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.

Author information

1
Institut de Neuropatologia, Servei d'Anatomia Patològica, IDIBELL/Hospital Universitari de Bellvitge, Servei d'Anatomia Patologica, Feixa Llarga sn, 08907, Hospitalet de Llobregat, Spain.

Abstract

Two sisters presented with olivopontocerebellar atrophy, neuronal loss in the substantia nigra, intranuclear ubiquitin-, ataxin-2-positive inclusions in neurons, and severe demyelination and axon loss of the cerebral white matter with no accompanying inflammatory pathology. The genetic study demonstrated a 22/36 CAG triplet expansion in the SCA2 gene in one of the sisters; SCA1, SCA3, SCA6, SCA7, SCA8, SCA12, SCA17 and DRPL were ruled out in this patient. The present report shows that severe cerebral white matter pathology may occur in the context of SCA2.

PMID:
15896478
DOI:
10.1016/j.neulet.2005.02.063
[Indexed for MEDLINE]

Supplemental Content

Full text links

Icon for Elsevier Science
Loading ...
Support Center