Diagnostic considerations in juvenile parkinsonism.
Juvenile parkinsonism (JP) describes patients in whom the clinical features of parkinsonism manifest before 21 years of age. Many reported cases that had a good response to levodopa have proved to have autosomal recessive juvenile parkinsonism (AR-JP) due to mutations in the parkin gene. With the exception of parkin mutations and dopa-responsive dystonia, most causes are associated with the presence of additional neurological signs, resulting from additional lesions outside of the basal ganglia. Lewy body pathology has only been reported in one case, suggesting that a juvenile form of idiopathic Parkinson's disease may be extremely rare.
National Hospital for Neurology and Neurosurgery, Queen Square, London, United Kingdom.
Dominic C
DC
Paviour
Robert A H
RA
Surtees
Andrew J
AJ
Lees
D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D016631:Lewy Bodies / Q000473:pathology; D009154:Mutation / Q000235:genetics; D009460:Neurologic Examination; D010300:Parkinson Disease / Q000175:diagnosis / Q000235:genetics / Q000473:pathology; D020734:Parkinsonian Disorders / Q000175:diagnosis* / Q000235:genetics / Q000473:pathology; D044767:Ubiquitin-Protein Ligases / Q000235:genetics
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein