Spinocerebellar ataxia type 2 (SCA2) with white matter involvement

被引：17

作者：

Armstrong, J

Bonaventura, I

Rojo, A

González, G

Corral, J

Nadal, N

Volpini, V

Ferrer, I

机构：

[1] Hosp Univ Bellvitge, IDIBELL, Serv Anat Patol, Inst Neuropathol,Serv Anat Patol,Hosp Llobregat, Lhospitalet De Llobregat 08907, Spain

[2] Canc Res Inst, Lhospitalet De Llobregat, Spain

[3] Hosp Mutua, Serv Neurol, Terrassa, Spain

[4] Hosp Mutua, Serv Anat Patol, Terrassa, Spain

来源：

NEUROSCIENCE LETTERS | 2005年 / 381卷 / 03期

关键词：

spinocerebellar ataxia; CAG expansion; white matter; SCA2; demyelination;

D O I：

10.1016/j.neulet.2005.02.063

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

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. (c) 2005 Elsevier Ireland Ltd. All rights reserved.

引用

页码：247 / 251

页数：5

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