Parkin gene causing benign autosomal recessive juvenile parkinsonism.
case_report · Level V
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- Record sourced from PubMed, PMID 11402119.
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Abstract
Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.
Medical subject headings
- Gene Deletion
- Ligases
- Parkinsonian Disorders
- Proteins
- Ubiquitin-Protein Ligases