PARK6-linked parkinsonism occurs in several European families

Enza Maria Valente, Francesco Brancati, Alessandro Ferraris, Elizabeth A. Graham, Mary B. Davis, Monique M B Breteler, Thomas Gasser, Vincenzo Bonifati, Anna Rita Bentivoglio, Giuseppe De Michele, Alexandra Drr, Pietro Cortelli, Dietmar Wassilowsky, Biswadjiet S. Harhangi, Nina Rawal, Viviana Caputo, Alessandro Filla, Giuseppe Meco, Ben A. Oostra

Research output: Contribution to journalArticlepeer-review


The Parkin gene on 6q25.2-27 is responsible for about 50% of autosomal recessive juvenile parkinsonism and less than 20% of sporadic early-onset cases. We recently mapped a novel locus for early-onset parkinsonism (PARK6) on chromosome 1p35-p36 in a large family from Sicily. We now confirm linkage to PARK6 in eight additional families with Parkin-negative autosomal recessive juvenile parkinsonism from four different European countries. The maximum cumulative pairwise LOD score was 5.39 for marker D1S478. Multipoint linkage analysis gave the highest cumulative LOD score of 6.29 for marker D1S478. Haplotype construction and determination of the smallest region of homozygosity in one consanguineous family has reduced the candidate interval to a 9cM region between markers D1S483 and D1S2674. No common haplotype could be detected, excluding a common founder effect. These families share some clinical features with the phenotype reported for European Parkin-positive cases, with a wide range of ages at onset (up to 68 yrs) and slow progression. However, features typical of autosomal recessive juvenile parkinsonism, including dystonia at onset and sleep benefit, were not observed in PARK6-linked families, thus making the clinical presentation of late-onset cases indistinguishable from idiopathic Parkinson's disease. PARK6 appears to be an important locus for early-onset parkinsonism in European Parkin-negative patients.

Original languageEnglish
Pages (from-to)14-18
Number of pages5
JournalAnnals of Neurology
Issue number1
Publication statusPublished - 2002

ASJC Scopus subject areas

  • Neuroscience(all)


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