Congenital Ichthyosis in a Case of Spinocerebellar Ataxia Type 34: A Novel Presentation for a Known Mutation

被引：8

作者：

Haeri, Ghazal ^{[1
]}

Hajiakhoundi, Fahimeh ^{[2
]}

Alavi, Afagh ^{[3
]}

Ghiasi, Maryam ^{[4
]}

Munhoz, Renato P. ^{[5
,6
,7
,8
]}

Rohani, Mohammad ^{[1
]}

机构：

[1] Iran Univ Med Sci, Hazrat Rasool Hosp, Dept Neurol, Tehran, Iran

[2] Iran Univ Med Sci, Firoozgar Hosp, Dept Neurol, Tehran, Iran

[3] Univ Social Welf & Rehabil Sci, Genet Res Ctr, Tehran, Iran

[4] Univ Tehran Med Sci, Razi Hosp, Dept Dermatol, Tehran, Iran

[5] Univ Toronto, Toronto Western Hosp, Morton & Gloria Shulman Movement Disorders Clin, Toronto, ON, Canada

[6] Univ Toronto, Toronto Western Hosp, Edmond J Safra Program Parkinsons Dis, Toronto, ON, Canada

[7] Univ Toronto, Div Neurol, Toronto, ON, Canada

[8] Krembil Brain Inst, Toronto, ON, Canada

来源：

MOVEMENT DISORDERS CLINICAL PRACTICE | 2021年

关键词：

spinocerebellar ataxia; ELOVL4; ELOVL fatty acid elongase 4; hot cross bun sign; myoclonus; ichthyosis; SCA34; ELOVL4; MUTATION;

D O I：

10.1002/mdc3.13123

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：4

共 7 条

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