Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism

Autor:	Ren Shyan Liu, Shwn Jen Lee, Din E. Shan, Bing-Wen Soong, Kwong Kum Liao, Chen Ming Sun
Rok vydání:	2001
Předmět:	Adult Male China Fluorine Radioisotopes Levodopa Pathology medicine.medical_specialty Nerve Tissue Proteins Neurological disorder Central nervous system disease Degenerative disease Parkinsonian Disorders Trinucleotide Repeats medicine Humans Spinocerebellar Ataxias Gait Aged business.industry Putamen Parkinsonism Dopaminergic Brain Proteins Middle Aged medicine.disease Pedigree nervous system diseases Ataxins Neurology Spinocerebellar ataxia Female Neurology (clinical) business Tomography Emission-Computed medicine.drug
Zdroj:	Annals of Neurology. 50:812-815
ISSN:	1531-8249 0364-5134
DOI:	10.1002/ana.10055
Popis:	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.
Databáze:	OpenAIRE
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