Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications

Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possibl...

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Bibliographic Details
Published in:Movement disorders 2004-11, Vol.19 (11), p.1357-1360
Main Authors: Shan, Din-E, Liu, Ren-Shyan, Sun, Chen-Ming, Lee, Shwn-Jen, Liao, Kwong-Kum, Soong, Bing-Wen
Format: Article
Language:English
Subjects:
Aged
Alleles
Antiparkinson Agents - therapeutic use
Ataxins
Biological and medical sciences
Caudate Nucleus - diagnostic imaging
Degenerative and inherited degenerative diseases of the nervous system. Leukodystrophies. Prion diseases
DNA Mutational Analysis
Dominance, Cerebral - physiology
Genetic Carrier Screening
Genetic Testing
Humans
Levodopa - therapeutic use
Male
Medical sciences
Middle Aged
Multiple sclerosis and variants. Guillain barré syndrome and other inflammatory polyneuropathies. Leukoencephalitis
Nerve Tissue Proteins
Neurologic Examination
Neurology
Parkinson Disease - diagnostic imaging
Parkinson Disease - drug therapy
Parkinson Disease - genetics
Parkinson's disease
PET
Polymerase Chain Reaction
Positron-Emission Tomography
Proteins - genetics
Putamen - diagnostic imaging
SCA2
Spinocerebellar Ataxias - diagnostic imaging
Spinocerebellar Ataxias - genetics
Treatment Outcome
Trinucleotide Repeats
Ubiquitin-Protein Ligases - genetics
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Summary:Among 242 patients with apparently sporadic Parkinson's disease, a 70‐year‐old man with a CAG repeat number of 37 in the SCA2 gene was identified. He has remained responsive to levodopa 14 years after onset and has had no overt signs suggesting cerebellar dysfunction. Although it is not possible to confirm if this patient has a de novo mutation of the SCA2 gene, this genetic defect seems to be contributing to his parkinsonian features and further supports the concept that apparently sporadic, late‐onset, levodopa‐responsive Parkinson's disease may have multiple causes. © 2004 Movement Disorder Society
ISSN:0885-3185
1531-8257
DOI:10.1002/mds.20212