101. Autosomal recessive juvenile parkinsonism
- Author
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Shoji Tsuji, Mieko Maruyama, Masaaki Saito, Atsushi Ishikawa, Hiroshi Kondo, Ken Ikeuchi, and Tatsuhiko Yuasa
- Subjects
Adult ,Male ,Parkinson's disease ,Positional cloning ,Adolescent ,Ubiquitin-Protein Ligases ,DNA Mutational Analysis ,Biology ,Genetic determinism ,Parkin ,Ligases ,Developmental Neuroscience ,Parkinsonian Disorders ,medicine ,Humans ,Hereditary Neurodegenerative Disorder ,Child ,Genetics ,Parkinsonism ,Dopaminergic ,Proteins ,General Medicine ,medicine.disease ,nervous system diseases ,Pediatrics, Perinatology and Child Health ,Nerve Degeneration ,Female ,Neurology (clinical) ,Age of onset ,Neuroscience - 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.
- Published
- 2000