title: Autosomal recessive juvenile parkinsonism.
abstract: 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.
authors.affiliation: Department of Neurology, National West Niigata Central Hospital, 950-2085, Niigata, Japan.
authors.forename: M
authors.initials: M
authors.lastname: Saito
authors.forename: M
authors.initials: M
authors.lastname: Maruyama
authors.forename: K
authors.initials: K
authors.lastname: Ikeuchi
authors.forename: H
authors.initials: H
authors.lastname: Kondo
authors.forename: A
authors.initials: A
authors.lastname: Ishikawa
authors.forename: T
authors.initials: T
authors.lastname: Yuasa
authors.forename: S
authors.initials: S
authors.lastname: Tsuji
mesh_terms: 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
chemical_list: D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases