Atypical parkinsonism with severely reduced striatal dopamine uptake associated with a 16p11.2 duplication syndrome

被引：0

作者：

Benjamin Roeben

Dominik Blum

Heinz Gabriel

Matthis Synofzik

机构：

[1] University of Tübingen,Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research (HIH)

[2] German Center for Neurodegenerative Diseases (DZNE),Department of Nuclear Medicine and Clinical Molecular Imaging

[3] University of Tübingen,undefined

[4] CeGaT GmbH/Praxis für Humangenetik Tübingen,undefined

来源：

Journal of Neurology | 2019年 / 266卷

关键词：

D O I：

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中图分类号：

学科分类号：

摘要：

引用

页码：775 / 776

页数：1

共 7 条

[1]

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[2]

Weiss LA(2008)Association between microdeletion and microduplication at 16p11.2 and autism N Engl J Med 358 667-675

[3]

McCarthy SE(2009)Microduplications of 16p11.2 are associated with schizophrenia Nat Genet 41 1223-1227

[4]

Steinman KJ(2016)16p11.2 deletion and duplication: characterizing neurologic phenotypes in a large clinically ascertained cohort Am J Med Genet A 170 2943-2955

[5]

Rana HQ(2013)Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling Genet Med 15 146-149

[6]

Barrett MJ(2013)Greater risk of parkinsonism associated with non-N370S GBA1 mutations J Inherit Metab Dis 36 575-580

[7]

Gan-Or Z(2015)Differential effects of severe vs mild GBA mutations on Parkinson disease Neurology 84 880-887

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