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Updated: Aug 18, 2026

Cerebellar Regional Dissection for Molecular Analysis
Published on: December 5, 2020
Spinocerebellar ataxia type 2 (SCA2) with white matter involvement
J Armstrong1, I Bonaventura, A Rojo
1Institut 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.
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