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PARK6 is a common cause of familial parkinsonism

Valente, EM; Brancati, F; Caputo, V; Graham, EA; Davis, MB; Ferraris, A; Breteler, MMB; ... European Consortium Genetic Suscep, ; + view all (2002) PARK6 is a common cause of familial parkinsonism. NEUROLOGICAL SCIENCES , 23 S117 - S118.

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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.

Type: Article
Title: PARK6 is a common cause of familial parkinsonism
Location: ALBA, ITALY
Keywords: JUVENILE PARKINSONISM, GENE, MUTATIONS, DISEASE
UCL classification: UCL > Provost and Vice Provost Offices
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Movement Neurosciences
URI: http://discovery.ucl.ac.uk/id/eprint/142549
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