Autosomal recessive juvenile parkinsonism.
Autosomal recessive juvenile parkinsonism (AR-JP) is a hereditary neurodegenerative disorder characterized by levodopa-responsive parkinsonism with onset before age 40 years and a slowly progressive course. Families with this condition have been described predominantly in Japanese population, occasionally under different names including an autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF) or a familial form of juvenile parkinsonism. Recently, the causative gene for AR-JP was mapped on chromosome 6q25.2-q27, and subsequently a novel gene 'parkin' was identified by means of positional cloning. In this manuscript, we review the clinical, pathological and genetical aspects of AR-JP. It would not only promise to provide important insights into the molecular mechanisms of selective degeneration of dopaminergic neurons in AR-JP, but also bring insights into the mechanisms of degeneration of these neurons in Parkinson's disease.
Saito
M
M
Department of Neurology, National West Niigata Central Hospital, 950-2085, Niigata, Japan.
Maruyama
M
M
Ikeuchi
K
K
Kondo
H
H
Ishikawa
A
A
Yuasa
T
T
Tsuji
S
S
D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D008025:Ligases; D008297:Male; D009410:Nerve Degeneration / Q000235:genetics* / Q000473:pathology*; D020734:Parkinsonian Disorders / Q000235:genetics* / Q000473:pathology*; D011506:Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases