[Clinical characteristics and linkage analysis of autosomal recessive form of juvenile parkinsonism(AR-JP)].
We present the clinical characteristics of autosomal recessive form of juvenile parkinsonism(AR-JP) (MIM 600116) and the result of the linkage analysis using 11 markers on the long arm of chromosome 6. We examined 25 patients of 13 Japanese AR-JP families. They showed female predominance, mean age at onset at 24.4 +/- 10.3 years, slow progression, good response to levodopa and frequent occurrence of wearing-off phenomenon and dopa-induced dyskinesia. Compared to Parkinson's disease(PD), the parkinsonian triad(tremor, rigidity and bradykinesia) were mild, but dystonic posture, postural instability and hyperreflexia were more prominent compared to PD. By the linkage analysis, we obtained a strong evidence for linkage of the AR-JP gene to a 17 cM region of chromosome 6q25.2-27 including the Mn-superoxide dismutase gene(SOD2) with a maximal cumulative multipoint lod score of 9.44 at 0.9 cM telomeric to D6S253.
Saito
M
M
Department of Neurology, Niigata University.
Matsumine
H
H
Tanaka
H
H
Ishikawa
A
A
Matsubayashi
S
S
Hattori
Y
Y
Mizuno
Y
Y
Tsuji
S
S
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D002896:Chromosomes, Human, Pair 6 / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010300:Parkinson Disease / Q000235:genetics* / Q000503:physiopathology; D013482:Superoxide Dismutase / Q000235:genetics
D013482:Superoxide Dismutase