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.
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; T., Gasser; V., Bonifati; A. R., Bentivoglio; DE MICHELE, Giuseppe; A., Dürr; P., Cortelli; Filla, Alessandro; G., Meco; B. A., Oostra; A., Brice; A., Albanese; B., Dallapiccola; N. W., Wood; E. C., On. - In: NEUROLOGICAL SCIENCES. - ISSN 1590-1874. - ELETTRONICO. - 23 Suppl 2:(2002), pp. S117-S118.
PARK6 is a common cause of familial parkinsonism.
DE MICHELE, GIUSEPPE;FILLA, ALESSANDRO;
2002
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.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
