Clinical Presentation and Early Evolution of Spastic Ataxia of Charlevoix-Saguenay

被引：44

作者：

Duquette, Antoine ^{[1
,2
,3
]}

Brais, Bernard ^{[4
,5
]}

Bouchard, Jean-Pierre ^{[6
,7
]}

Mathieu, Jean ^{[8
,9
]}

机构：

[1] Fac Med, Dept Med, Serv Neurol, Unite Troubles Mouvement Andre Barbeau, Montreal, PQ, Canada

[2] Fac Med, Dept Med, Serv Med Genique, Unite Troubles Mouvement Andre Barbeau, Montreal, PQ, Canada

[3] Ctr Hosp Univ Montreal, Montreal, PQ H2L 4M1, Canada

[4] McGill Univ, Dept Neurol & Neurosurg, Montreal Neurol Hosp, Fac Med, Montreal, PQ, Canada

[5] McGill Univ, Dept Human Genet, Montreal Neurol Hosp, Fac Med, Montreal, PQ, Canada

[6] CHU Quebec, Hop Enfant Jesus, Quebec City, PQ, Canada

[7] Univ Laval, Fac Med, Dept Neurol Sci, Quebec City, PQ G1K 7P4, Canada

[8] Univ Sherbrooke, Complexe Hosp Sagamie, Jonquiere, PQ, Canada

[9] Univ Sherbrooke, Fac Med & Sci Sante, Jonquiere, PQ, Canada

来源：

MOVEMENT DISORDERS | 2013年 / 28卷 / 14期

关键词：

spinocerebellar ataxia; spasticity; neuropathy; French-Canadian; ARSACS; SACSIN-RELATED ATAXIA; RECESSIVE CEREBELLAR ATAXIAS; NORTHEASTERN QUEBEC; ARSACS; MUTATIONS; FAMILY; GENE; PHENOTYPE; FEATURES;

D O I：

10.1002/mds.25604

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

BackgroundAutosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an increasingly recognized form of spastic ataxia worldwide, but early diagnosis remains a challenge. MethodsWe reviewed the initial presentation (n=40) and early clinical evolution (n=50) of a large ARSACS cohort that was followed at the Saguenay Neuromuscular clinic. ResultsThe average age at presentation was 3.411.55 years. Increased deep tendon reflexes were more common than spasticity initially, and the neuropathy only became apparent clinically in the second decade. Despite a homogeneous genetic background, some patients showed no signs of neuropathy or spasticity by the age of 18 years. ConclusionsAt presentation, ARSACS lacks certain features that are considered typical in adults after years of evolution. Considering that ARSACS is probably under-diagnosed, it should be included in the differential diagnosis of early onset ataxias with or without pyramidal features and is worthwhile to consider in older patients, even when some features are absent. (c) 2013 International Parkinson and Movement Disorder Society

引用

页码：2011 / 2014

页数：4

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