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.
Valente, E., Brancati, F., Caputo, V., Graham, E., Davis, M., Ferraris, A., Breteler, M., Gasser, T., Bonifati, V., Bentivoglio, A. R., De Michele, G., Dürr, A., Cortelli, P., Filla, A., Meco, G., Ooastra, B., Brice, A., Albanese, A., Dallapiccola, B., Wood, N., PARK6 is a common cause of familial parkinsonism, <<NEUROLOGICAL SCIENCES>>, 2002; 23 Suppl 2 (23): 117-118. [doi:10.1007/s100720200097] [http://hdl.handle.net/10807/31628]
PARK6 is a common cause of familial parkinsonism
Bentivoglio, Anna Rita;Albanese, Alberto;
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.
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