PARK6 is a common cause of familial parkinsonism

E. M. Valente, F. Brancati, V. Caputo, E. A. Graham, M. B. Davis, A. Ferraris, M. M B Breteler, T. Gasser, V. Bonifati, A. R. Bentivoglio, G. De Michele, A. Dürr, P. Cortelli, A. Filla, G. Meco, B. A. Oostra, A. Brice, A. Albanese, B. Dallapiccola, N. W. Wood

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
JournalNeurological Sciences
Volume23
Issue numberSUPPL. 2
DOIs
Publication statusPublished - Sep 2002

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

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