Clinical and Neuropathological Features of Spastic Ataxia in a Spanish Family with Novel Compound Heterozygous Mutations in STUB1

被引：31

作者：

Bettencourt, Conceicao ^{[1
,2
,3
,4
]}

Garcia de Yebenes, Justo ^{[5
]}

Luis Lopez-Sendon, Jose ^{[5
]}

Shomroni, Orr ^{[6
]}

Zhang, Xingqian ^{[7
]}

Qian, Shu-Bing ^{[7
]}

Bakker, Ingrid M. C. ^{[6
]}

Heetveld, Sasja ^{[6
]}

Ros, Raquel ^{[5
]}

Quintans, Beatriz ^{[8
,9
]}

Sobrido, Maria-Jesus ^{[8
,9
]}

Bevova, Marianna R. ^{[6
,10
]}

Jain, Shushant ^{[6
,11
]}

Bugiani, Marianna ^{[12
,13
]}

Heutink, Peter ^{[6
,11
]}

Rizzu, Patrizia ^{[6
,11
]}

机构：

[1] UCL Inst Neurol, Dept Mol Neurosci, London, England

[2] Univ Porto, Inst Mol & Cell Biol, P-4100 Oporto, Portugal

[3] Univ Azores, Ctr Res Nat Resources CIRN, Ponta Delgada, Portugal

[4] Univ Azores, Dept Biol, Ponta Delgada, Portugal

[5] Hosp Ramon & Cajal, Dept Neurol, E-28034 Madrid, Spain

[6] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Amsterdam, Netherlands

[7] Cornell Univ, Div Nutr Sci, Ithaca, NY USA

[8] Clin Hosp Santiago de Compostela SERGAS, Fdn Publ Galega Med Xenom, Santiago De Compostela, Spain

[9] Clin Hosp Santiago de Compostela SERGAS, Hlth Res Inst Santiago de Compostela IDIS, Santiago De Compostela, Spain

[10] European Res Inst Biol Ageing, Groningen, Netherlands

[11] German Ctr Neurodegenerat Dis, Tubingen, Germany

[12] Vrije Univ Amsterdam Med Ctr, Dept Pediat, Child Neurol, Amsterdam, Netherlands

[13] Vrije Univ Amsterdam Med Ctr, Dept Pathol, Amsterdam, Netherlands

来源：

CEREBELLUM | 2015年 / 14卷 / 03期

关键词：

Autosomal Recessive Inheritance; Compound Heterozygous Mutation; Neuronal Intranuclear Inclusion; Ocular Pursuit; Neurogenic Dysphagia;

D O I：

10.1007/s12311-014-0643-7

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

引用

页码：378 / 381

页数：4

共 9 条

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Shomroni, O.
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[9] Phenotype and frequency of STUB1 mutations: next-generation screenings in Caucasian ataxia and spastic paraplegia cohorts
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