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Titolo:
Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families
Autore:
Bentivoglio, AR; Cortelli, P; Valente, EM; Ialongo, T; Ferraris, A; Elia, A; Montagna, P; Albanese, A;
Indirizzi:
Univ Sacred Heart, Inst Neurol, I-00168 Rome, Italy Univ Sacred Heart Rome Italy I-00168 t, Inst Neurol, I-00168 Rome, Italy Univ Modena, Dipartimento Patol Neuropsicosensoriale, I-41100 Modena, Italy Univ Modena Modena Italy I-41100 opsicosensoriale, I-41100 Modena, Italy Ist CSS Mendel, Rome, Italy Ist CSS Mendel Rome ItalyIst CSS Mendel, Rome, Italy Univ Bologna, Neurol Clin, Bologna, Italy Univ Bologna Bologna ItalyUniv Bologna, Neurol Clin, Bologna, Italy Ist Nazl Neurol Carlo Besta, Milan, Italy Ist Nazl Neurol Carlo Besta Milan Italy eurol Carlo Besta, Milan, Italy
Titolo Testata:
MOVEMENT DISORDERS
fascicolo: 6, volume: 16, anno: 2001,
pagine: 999 - 1006
SICI:
0885-3185(200111)16:6<999:PCOARP>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
DYSTONIA-PARKINSONISM; DISEASE; GENE; MUTATIONS; REGION; LOCUS;
Keywords:
autosomal recessive parkinsonism; Parkinson's disease; early onset; family study; genetics; PARK6;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Bentivoglio, AR Univ Sacred Heart, Inst Neurol, Largo Agostino Gemelli 8, I-00168 Rome, Italy Univ Sacred Heart Largo Agostino Gemelli 8 Rome Italy I-00168
Citazione:
A.R. Bentivoglio et al., "Phenotypic characterisation of autosomal recessive PARK6-linked parkinsonism in three unrelated Italian families", MOVEMENT D, 16(6), 2001, pp. 999-1006

Abstract

The clinical features of nine patients {three women and six men) affected by PARK6-linked parkinsonism, belonging to three unrelated Italian families, are reported. The occurrence of affected men and women within one generation suggested an autosomal recessive mode of inheritance in all three families. Mean age at disease onset was 36 +/- 4.6 years; all cases except one presented with asymmetrical signs, consisting of tremor and akinesia of one upper limb or unilateral short step gait. Affected individuals had a mean age of 57 +/- 8.5 years, and average disease duration was 21 +/- 7.8 years. Parkinsonian features included benign course, early onset of drug-induced dyskinesias, and a good and persistent response to levodopa. There were no other associated features (i.e., pyramidal or cerebellar signs, dysautonomia, or diurnal fluctuations unrelated to drug treatment). Cognition was unaffected. The clinical picture was remarkably similar in all patients; no relevant family-related differences were found. PARK6 disease is a new form of early-onset parkinsonism without other atypical clinical features. (C) 2001Movement Disorder Society.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 20/06/19 alle ore 17:01:23