1.
Neurology
; 60(8): 1393-4, 2003 Apr 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-12707457
2.
Neurology
; 56(11): 1573-5, 2001 Jun 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-11402119
RESUMO
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.