title: PARK6 is a common cause of familial parkinsonism.
abstract: 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.
authors.affiliation: C.S.S. Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, Italy.
authors.forename: E M
authors.initials: EM
authors.lastname: Valente
authors.forename: F
authors.initials: F
authors.lastname: Brancati
authors.forename: V
authors.initials: V
authors.lastname: Caputo
authors.forename: E A
authors.initials: EA
authors.lastname: Graham
authors.forename: M B
authors.initials: MB
authors.lastname: Davis
authors.forename: A
authors.initials: A
authors.lastname: Ferraris
authors.forename: M M B
authors.initials: MM
authors.lastname: Breteler
authors.forename: T
authors.initials: T
authors.lastname: Gasser
authors.forename: V
authors.initials: V
authors.lastname: Bonifati
authors.forename: A R
authors.initials: AR
authors.lastname: Bentivoglio
authors.forename: G
authors.initials: G
authors.lastname: De Michele
authors.forename: A
authors.initials: A
authors.lastname: Dürr
authors.forename: P
authors.initials: P
authors.lastname: Cortelli
authors.forename: A
authors.initials: A
authors.lastname: Filla
authors.forename: G
authors.initials: G
authors.lastname: Meco
authors.forename: B A
authors.initials: BA
authors.lastname: Oostra
authors.forename: A
authors.initials: A
authors.lastname: Brice
authors.forename: A
authors.initials: A
authors.lastname: Albanese
authors.forename: B
authors.initials: B
authors.lastname: Dallapiccola
authors.forename: N W
authors.initials: NW
authors.lastname: Wood
mesh_terms: 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
chemical_list: D044767:Ubiquitin-Protein Ligases; C111567:parkin protein; D008025:Ligases