SCA 15 presenting with parkinsonism–dystonia, tremor, and psychosis in an Indian woman

Q3 Medicine Annals of Movement Disorders Pub Date : 2024-04-05 DOI:10.4103/aomd.aomd_32_23
Narendrakumar H Barad, C. Sankhla
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Abstract

Spinocerebellar ataxias (SCAs) represent a diverse group of hereditary and progressive neurological disorders characterized by their onset in adulthood and commonly exhibit autosomal dominant inheritance. These disorders typically involve multiple brain regions, including the cerebellum, spinal cord, basal ganglia, brainstem, and cortical areas, leading to varied and heterogeneous clinical presentations. In particular, SCA 15 is recognized as an adult-onset, slowly progressive cerebellar syndrome, often accompanied by various other neurological manifestations. In this report, we present a novel clinical phenotype of parkinsonism–dystonia syndrome co-occurring with cerebellar features in a genetically confirmed case of SCA 15.
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一名印度妇女因 SCA 15 而出现帕金森-肌张力障碍、震颤和精神病
脊髓小脑性共济失调(SCA)是一组遗传性和进行性神经系统疾病,其特点是成年后发病,通常呈常染色体显性遗传。这些疾病通常累及多个脑区,包括小脑、脊髓、基底节、脑干和皮质区域,导致不同的临床表现。其中,SCA 15 被认为是一种成人发病、缓慢进展的小脑综合征,通常伴有其他各种神经系统表现。在本报告中,我们介绍了一例经基因确诊的 SCA 15 患者帕金森病-肌张力障碍综合征并发小脑特征的新型临床表型。
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来源期刊
Annals of Movement Disorders
Annals of Movement Disorders Medicine-Surgery
CiteScore
0.60
自引率
0.00%
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0
审稿时长
17 weeks
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