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., V., F., B., V., C., E. A., G., M. B., D., A., F., M. M., B., T., G., V., B., A. R., B., DE MICHELE, G., A., D., P., C., Filla, A., G., M., B. A., O., A., B., A., A., B., D., N. W., W., et al.. - 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.
