Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Lewy bodies and parkinsonism in families with parkin mutations
Autore:
Farrer, M; Chan, P; Chen, R; Tan, L; Lincoln, S; Hernandez, D; Forno, L; Gwinn-Hardy, K; Petrucelli, L; Hussey, J; Singleton, A; Tanner, C; Hardy, J; Langston, JW;
Indirizzi:
Parkinson Inst, Sunnyvale, CA 94089 USA Parkinson Inst Sunnyvale CA USA 94089 inson Inst, Sunnyvale, CA 94089 USA Mayo Clin Jacksonville, Dept Neurosci, Neurogenet Lab, Jacksonville, FL 32224 USA Mayo Clin Jacksonville Jacksonville FL USA 32224 cksonville, FL 32224 USA Palo Alto Vet Adm Hlth Care Syst, Palo Alto, CA USA Palo Alto Vet Adm HlthCare Syst Palo Alto CA USA yst, Palo Alto, CA USA
Titolo Testata:
ANNALS OF NEUROLOGY
fascicolo: 3, volume: 50, anno: 2001,
pagine: 293 - 300
SICI:
0364-5134(200109)50:3<293:LBAPIF>2.0.ZU;2-L
Fonte:
ISI
Lingua:
ENG
Soggetto:
RECESSIVE JUVENILE PARKINSONISM; GENE; DISEASE; DELETIONS; ONSET; ASSOCIATION; EXPRESSION; PROTEIN;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Langston, JW Parkinson Inst, 1170 Morse Ave, Sunnyvale, CA 94089 USA Parkinson Inst 1170 Morse Ave Sunnyvale CA USA 94089 4089 USA
Citazione:
M. Farrer et al., "Lewy bodies and parkinsonism in families with parkin mutations", ANN NEUROL, 50(3), 2001, pp. 293-300

Abstract

Previous work has established that compound mutations and homozygous loss of function of the parkin gene cause early-onset, autosomal recessive parkinsonism. Classically, this disease has been associated with loss of dopaminergic neurons in the substantia nigra pars compacta and locus ceruleus, without Lewy body pathology. We have sequenced the parkin gene of 38 patients with early-onset Parkinson's disease (< 41 years). Two probands with mutations were followed up. Clinical evaluation of their families was performed, blinded to both genetic and pathological findings. Chromosome 6q25.2-27 haplotype analysis was carried out independently of the trait, parkin gene expression was examined at both the RNA and protein levels. Haplotype analysisof these families revealed a common chromosome 6, with a novel 40 bp exon 3 deletion that cosegregated with disease. In the proband of the smaller kindred, an exon 7 R275W substitution was identified in addition to the exon 3 deletion; RNA analysis demonstrated that the mutations were on alternate transcripts. However, Lewy body pathology typical of idiopathic Parkinson'sdisease was found at autopsy in the proband from the smaller kindred. These data suggest that compound heterozygous parkin mutations and loss of Parkin protein may lead to early onset parkinsonism with Lewy body pathology, while a hemizygous mutation may confer increased susceptibility to typical Parkinson's disease.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 17/09/19 alle ore 23:20:30