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Titolo:
Early-onset Parkinson's disease associated with a new parkin mutation in aSpanish family
Autore:
Alvarez, V; Guisasola, LM; Moreira, VG; Lahoz, CH; Coto, E;
Indirizzi:
Univ Oviedo, Hosp Cent Asturias, Oviedo 33006, Spain Univ Oviedo Oviedo Spain 33006 , Hosp Cent Asturias, Oviedo 33006, Spain
Titolo Testata:
NEUROSCIENCE LETTERS
fascicolo: 1-2, volume: 313, anno: 2001,
pagine: 108 - 110
SICI:
0304-3940(20011102)313:1-2<108:EPDAWA>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE JUVENILE PARKINSONISM; UBIQUITIN-PROTEIN LIGASE; GENE; DELETIONS;
Keywords:
Parkinson's disease; early-onset parkinsonism; PARKIN gene; mutations;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Coto, E Univ Oviedo, Hosp Cent Asturias, Oviedo 33006, Spain Univ Oviedo Oviedo Spain 33006 ent Asturias, Oviedo 33006, Spain
Citazione:
V. Alvarez et al., "Early-onset Parkinson's disease associated with a new parkin mutation in aSpanish family", NEUROSCI L, 313(1-2), 2001, pp. 108-110

Abstract

Mutations in the PARKIN gene are associated with early-onset (juvenile) Parkinson's disease. We analyzed the coding sequence of this gene (exons 1-12) in patients from a family with three affected siblings, born to first-degree consanguineous parents, with an onset before 23 years and foot dystoniaas the initial clinical symptom. The three patients were alive without cognitive impairment at ages of 70, 69, and 65 years, showing a marked response to levodopa treatment. A 2 bp-deletion at exon 11 (1276-1277 del GA) was found. The three patients were homozygous for this frameshift mutation, which would introduce a Stop at codon 394. This is a new PARKIN-mutation that would produce a truncated protein, lacking exon 12 and most the 11th. This region includes the C-terminal ring-finger domain of parkin, essential for its function as a ubiquitin-protein ligase. Compared to patients from otherfamilies with truncating mutations, our patients had an earlier onset. In addition, the three patients had clystonia at onset. In conclusion, we described a new PARKIN truncating mutation associated with an early onset parkinsonism, and the presence of foot clystonia as the initial symptom. (C) 2001 Published by Elsevier Science Ireland Ltd.

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Documento generato il 17/09/19 alle ore 18:34:33