PARK6 is a common cause of familial parkinsonism.
The Parkin gene is responsible for about 50% of autosomal recessive juvenile parkinsonism (ARJP) and less than 20% of sporadic early onset cases. We recently mapped a novel ARJP locus (PARK6) on chromosome 1p. Linkage to PARK6 was confirmed in 8 families from 4 different European countries. These families share some clinical features with the European Parkin-positive cases, with a wide range of ages at onset and slow progression. However, features typical of ARJP, such as dystonia and sleep benefit, were not observed, making the clinical presentation of late-onset cases indistinguishable from that of idiopathic PD. The determination of the smallest region of homozygosity in one consanguineous family allowed reducing the candidate interval to 9 cM. PARK6 appears to be an important locus for ARJP in Europe.
Valente
E M
EM
C.S.S. Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, Italy.
Brancati
F
F
Caputo
V
V
Graham
E A
EA
Davis
M B
MB
Ferraris
A
A
Breteler
M M B
MM
Gasser
T
T
Bonifati
V
V
Bentivoglio
A R
AR
De Michele
G
G
Dürr
A
A
Cortelli
P
P
Filla
A
A
Meco
G
G
Oostra
B A
BA
Brice
A
A
Albanese
A
A
Dallapiccola
B
B
Wood
N W
NW
D002878:Chromosomes, Human, Pair 1; D005060:Europe / Q000453:epidemiology; D008040:Genetic Linkage; D005838:Genotype; D006801:Humans; D008025:Ligases / Q000235:genetics*; D020734:Parkinsonian Disorders / Q000453:epidemiology / Q000235:genetics*; D010375:Pedigree; D044767:Ubiquitin-Protein Ligases
D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases