Autosomal recessive early onset parkinsonism is linked to three loci: PARK2, PARK6, and PARK7.
Autosomal recessive, early onset parkinsonism (AREP) is genetically heterogeneous. Mutations in the parkin gene (PARK2 locus, chromosome 6q) account for up to 50% of AREP families. The parkin protein displays ubiquitin-ligase activity for different targets, which accumulate in the brain of patients with parkin defect and might cause neurodegeneration. Two new AREP loci (PARK6 and PARK7) have been recently mapped on chromosome 1p and confirmed in independent datasets, suggesting that both might be frequent. The three AREP forms display similar clinical phenotypes. Recruiting new families will help cloning the defective genes at PARK6 and PARK7 loci. This will contribute to unraveling the pathogenesis of AREP, and it is also expected to foster our understanding of molecular events underlying classic Parkinson's disease.
Bonifati
V
V
Department of Neurological Sciences, La Sapienza University, Viale dell'Università 30, I-00185 Rome, Italy.
Dekker
M C J
MC
Vanacore
N
N
Fabbrini
G
G
Squitieri
F
F
Marconi
R
R
Antonini
A
A
Brustenghi
P
P
Dalla Libera
A
A
De Mari
M
M
Stocchi
F
F
Montagna
P
P
Gallai
V
V
Rizzu
P
P
van Swieten
J C
JC
Oostra
B
B
van Duijn
C M
CM
Meco
G
G
Heutink
P
P
D017668:Age of Onset; D003241:Consanguinity; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics*; D009154:Mutation; D020734:Parkinsonian Disorders / Q000235:genetics*; D010375:Pedigree; D010641:Phenotype; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases