Spinocerebellar ataxia type 2 (SCA2) with white matter involvement.
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.
Armstrong
J
J
Institut de Neuropatologia, Servei d'Anatomia Patològica, IDIBELL/Hospital Universitari de Bellvitge, Servei d'Anatomia Patologica, Feixa Llarga sn, 08907, Hospitalet de Llobregat, Spain.
Bonaventura
I
I
Rojo
A
A
González
G
G
Corral
J
J
Nadal
N
N
Volpini
V
V
Ferrer
I
I
D000328:Adult; D001921:Brain / Q000473:pathology*; D005260:Female; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D010375:Pedigree; D020754:Spinocerebellar Ataxias / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D019680:Trinucleotide Repeat Expansion