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. 2001 Dec;50(6):812-5.
doi: 10.1002/ana.10055.

Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

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Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

D E Shan et al. Ann Neurol. 2001 Dec.

Abstract

A genetic analysis identified 2 patients, approximately one-tenth of our patients with familial parkinsonism, who had expanded trinucleotide repeats in SCA2 genes. The reduction of 18F-dopa distribution in both the putamen and caudate nuclei confirmed that the nigrostriatal dopaminergic system was involved in parkinsonian patients with SCA2 mutation.

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  • Role of SCA2 mutations in early- and late-onset dopa-responsive parkinsonism.
    Kock N, Müller B, Vieregge P, Pramstaller PP, Marder K, Abbruzzese G, Martinelli P, Lang AE, Jacobs H, Hagenah J, Harris J, Meija-Santana H, Fahn S, Hedrich K, Kann M, Gehlken U, Culjkovic B, Schwinger E, Wszolek ZK, Zühlke C, Klein C. Kock N, et al. Ann Neurol. 2002 Aug;52(2):257-8; author reply 258. doi: 10.1002/ana.10270. Ann Neurol. 2002. PMID: 12210804 No abstract available.

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