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 Breteler, T. Gasser, V. Bonifati, A. R. Bentivoglio, G. De Michele, A. Dürr, P. Cortelli, A. Filla, G. Meco, B. A. Oostra, A. Brice, A. Albanese, B. Dallapiccola, N. W. Wood

Research output: Contribution to journalArticle

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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.

Original languageEnglish
JournalNeurological Sciences
Volume23
Issue numberSUPPL. 2
DOIs
Publication statusPublished - Sep 2002

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Parkinsonian Disorders
Dystonia
Age of Onset
Sleep
Chromosomes
Genes

ASJC Scopus subject areas

  • Neuroscience(all)
  • Clinical Neurology

Cite this

Valente, E. M., Brancati, F., Caputo, V., Graham, E. A., Davis, M. B., Ferraris, A., ... Wood, N. W. (2002). PARK6 is a common cause of familial parkinsonism. Neurological Sciences, 23(SUPPL. 2). https://doi.org/10.1007/s100720200097

PARK6 is a common cause of familial parkinsonism. / Valente, E. M.; Brancati, F.; Caputo, V.; Graham, E. A.; Davis, M. B.; Ferraris, A.; Breteler, M. M B; Gasser, T.; Bonifati, V.; Bentivoglio, A. R.; De Michele, G.; Dürr, A.; Cortelli, P.; Filla, A.; Meco, G.; Oostra, B. A.; Brice, A.; Albanese, A.; Dallapiccola, B.; Wood, N. W.

In: Neurological Sciences, Vol. 23, No. SUPPL. 2, 09.2002.

Research output: Contribution to journalArticle

Valente, EM, Brancati, F, Caputo, V, Graham, EA, Davis, MB, Ferraris, A, Breteler, MMB, Gasser, T, Bonifati, V, Bentivoglio, AR, De Michele, G, Dürr, A, Cortelli, P, Filla, A, Meco, G, Oostra, BA, Brice, A, Albanese, A, Dallapiccola, B & Wood, NW 2002, 'PARK6 is a common cause of familial parkinsonism', Neurological Sciences, vol. 23, no. SUPPL. 2. https://doi.org/10.1007/s100720200097
Valente EM, Brancati F, Caputo V, Graham EA, Davis MB, Ferraris A et al. PARK6 is a common cause of familial parkinsonism. Neurological Sciences. 2002 Sep;23(SUPPL. 2). https://doi.org/10.1007/s100720200097
Valente, E. M. ; Brancati, F. ; Caputo, V. ; Graham, E. A. ; Davis, M. B. ; Ferraris, A. ; Breteler, M. M B ; Gasser, T. ; Bonifati, V. ; Bentivoglio, A. R. ; De Michele, G. ; Dürr, A. ; Cortelli, P. ; Filla, A. ; Meco, G. ; Oostra, B. A. ; Brice, A. ; Albanese, A. ; Dallapiccola, B. ; Wood, N. W. / PARK6 is a common cause of familial parkinsonism. In: Neurological Sciences. 2002 ; Vol. 23, No. SUPPL. 2.
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