Neurological Sciences

, Volume 23, Supplement 2, pp s117–s118

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
  • and the European Consortium on Genetic Susceptibility in Parkinson's Disease

DOI: 10.1007/s100720200097

Cite this article as:
Valente, E., Brancati, F., Caputo, V. et al. Neurol Sci (2002) 23(Suppl 2): s117. doi:10.1007/s100720200097

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.

Copyright information

© Springer-Verlag Italia 2002

Authors and Affiliations

  • E.M. Valente
    • 1
  • F. Brancati
    • 1
  • V. Caputo
    • 1
  • E.A. Graham
    • 2
  • M.B. Davis
    • 2
  • A. Ferraris
    • 1
  • M.M.B. Breteler
    • 3
  • T. Gasser
    • 4
  • V. Bonifati
    • 5
  • A.R. Bentivoglio
    • 6
  • G. De Michele
    • 7
  • A. Dürr
    • 8
  • P. Cortelli
    • 9
  • A. Filla
    • 7
  • G. Meco
    • 5
  • B.A. Oostra
    • 3
  • A. Brice
    • 8
  • A. Albanese
    • 10
  • B. Dallapiccola
    • 1
  • N.W. Wood
    • 2
  • and the European Consortium on Genetic Susceptibility in Parkinson's Disease
  1. 1.C.S.S. Mendel Institute, Viale Regina Margherita 261, I-00198 Rome, ItalyIT
  2. 2.Institute of Neurology, London, UKGB
  3. 3.Erasmus University, Rotterdam, The NetherlandsNL
  4. 4.Ludwig Maximilians Universität, Münich, GermanyDE
  5. 5.University “La Sapienza”, Rome, ItalyIT
  6. 6.Catholic University, Rome, ItalyIT
  7. 7.University “Federico II”, Naples, ItalyIT
  8. 8.INSERM U289, Hôpital de la Salpêtrière, Paris, FranceFR
  9. 9.University of Modena, Modena, ItalyIT
  10. 10.National Neurological Institute “Carlo Besta”, Milan, ItalyIT

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