PARK6 is a common cause of familial parkinsonism

Anna Rita Bentivoglio, Alberto Albanese, Valente Em, F Brancati, V Caputo, Graham Ea, Davis Mb, A Ferraris, Breteler Mm, T Gasser, V Bonifati, Michele G De, A Dürr, P Cortelli, A Filla, G Meco, Ooastra Ba, A Brice, B Dallapiccola, Wood Nw

Risultato della ricerca: Contributo in rivistaArticolo in rivista

21 Citazioni (Scopus)

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.
Lingua originaleEnglish
pagine (da-a)117-118
Numero di pagine2
RivistaNeurological Sciences
Volume23 Suppl 2
DOI
Stato di pubblicazionePubblicato - 2002

Keywords

  • Europe
  • Genetic Linkage
  • Genotype
  • Ligases
  • Parkinsonian Disorders
  • Pedigree
  • Ubiquitin-Protein Ligases

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