Parkin gene causing benign autosomal recessive juvenile parkinsonism.
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.
Nisipeanu
P
P
Department of Neurology, Hillel Yaffe Medical Center, Hadera, Israel. neurology@hillel-yaffe.helth.gov.il
Inzelberg
R
R
Abo Mouch
S
S
Carasso
R L
RL
Blumen
S C
SC
Zhang
J
J
Matsumine
H
H
Hattori
N
N
Mizuno
Y
Y
D000293:Adolescent; D000328:Adult; D017668:Age of Onset; D001483:Base Sequence; D018450:Disease Progression; D005091:Exons; D005192:Family Health; D005260:Female; D017353:Gene Deletion; D005838:Genotype; D006801:Humans; D008025:Ligases; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D011506:Proteins / Q000235:genetics*; D044767:Ubiquitin-Protein Ligases
D011506:Proteins; D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases