Early-onset parkinsonism and hereditary spastic paraplegia type 7: pearls and pitfalls

被引：2

作者：

Phillips, Oliver ^{[1
,2
]}

Amato, Alexa M. ^{[1
]}

Fernandez, Hubert H. ^{[1
]}

机构：

[1] Cleveland Clin, Ctr Neurol Restorat, 9500 Euclid Ave, Cleveland, OH 44195 USA

[2] 9500 Euclid Ave, Cleveland, OH 44195 USA

来源：

PARKINSONISM & RELATED DISORDERS | 2023年 / 110卷

关键词：

MUTATIONS;

D O I：

10.1016/j.parkreldis.2023.105315

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe a case with co-occurring SPG7 and GBA mutations in a patient presenting with early-onset asymmetric parkinsonism with levodopa-induced dyskinesias and dystonia who underwent pallidal deep brain stimulation and developed spastic paraparesis. This case highlights diagnostic and management challenges in individuals with unusual or misleading presentations of rare genetic conditions.

引用

页数：2

共 10 条

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