Presence of spinocerebellar ataxia type 2 gene mutation in a patient with apparently sporadic Parkinson's disease: Clinical implications
| Autor: | Bing-Wen Soong, Shwn Jen Lee, Ren Shyan Liu, Kwong Kum Liao, Chen Ming Sun, Din E. Shan |
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| Rok vydání: | 2004 |
| Předmět: |
Male
Levodopa Pathology medicine.medical_specialty Parkinson's disease Ubiquitin-Protein Ligases DNA Mutational Analysis Nerve Tissue Proteins Disease Gene mutation medicine.disease_cause Polymerase Chain Reaction Antiparkinson Agents Central nervous system disease Degenerative disease Trinucleotide Repeats Humans Spinocerebellar Ataxias Medicine Genetic Testing Dominance Cerebral Alleles Aged Neurologic Examination Mutation business.industry Genetic Carrier Screening Putamen Proteins Parkinson Disease Middle Aged medicine.disease nervous system diseases Treatment Outcome Ataxins Neurology Positron-Emission Tomography Immunology Spinocerebellar ataxia Neurology (clinical) Caudate Nucleus business medicine.drug |
| Zdroj: | Movement Disorders. 19:1357-1360 |
| ISSN: | 1531-8257 0885-3185 |
| DOI: | 10.1002/mds.20212 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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