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 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.
Shan
Din-E
DE
The Neurological Institute, Taipei Veterans General Hospital, Taipei, Taiwan, Republic of China.
Liu
Ren-Shyan
RS
Sun
Chen-Ming
CM
Lee
Shwn-Jen
SJ
Liao
Kwong-Kum
KK
Soong
Bing-Wen
BW
D000368:Aged; D000483:Alleles; D000978:Antiparkinson Agents / Q000627:therapeutic use; D000067528:Ataxins; D002421:Caudate Nucleus / Q000000981:diagnostic imaging; D004252:DNA Mutational Analysis; D004292:Dominance, Cerebral / Q000502:physiology; D006580:Genetic Carrier Screening; D005820:Genetic Testing; D006801:Humans; D007980:Levodopa / Q000627:therapeutic use; D008297:Male; D008875:Middle Aged; D009419:Nerve Tissue Proteins; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000000981:diagnostic imaging / Q000188:drug therapy / Q000235:genetics*; D016133:Polymerase Chain Reaction; D049268:Positron-Emission Tomography; D011506:Proteins / Q000235:genetics*; D011699:Putamen / Q000000981:diagnostic imaging; D020754:Spinocerebellar Ataxias / Q000000981:diagnostic imaging / Q000235:genetics*; D016896:Treatment Outcome; D018911:Trinucleotide Repeats; D044767:Ubiquitin-Protein Ligases / Q000235:genetics*
D000978:Antiparkinson Agents; D000067528:Ataxins; D009419:Nerve Tissue Proteins; D011506:Proteins; D007980:Levodopa; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein