Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance
Autore:
Perniola, T; Margari, L; de Iaco, MG; Presicci, A; Ventura, P; Ferrannini, E; Illiceto, G;
Indirizzi:
Univ Bari, Child Neuropsychiat Serv, Dept Neurol & Psychait Sci, I-70125 Bari, Italy Univ Bari Bari Italy I-70125 Neurol & Psychait Sci, I-70125 Bari, Italy
Titolo Testata:
MOVEMENT DISORDERS
fascicolo: 4, volume: 16, anno: 2001,
pagine: 724 - 730
SICI:
0885-3185(200107)16:4<724:FPEDEA>2.0.ZU;2-W
Fonte:
ISI
Lingua:
ENG
Soggetto:
DYSTONIC CHOREOATHETOSIS; KINESIGENIC CHOREOATHETOSIS; INFANTILE CONVULSIONS; HYPOGLYCEMIA; DISORDER; ATTACKS; SLEEP;
Keywords:
paroxysmal exercise-induced dyskinesia; idiopathic generalised epilepsy; mental retardation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Perniola, T Univ Bari, Child Neuropsychiat Serv, Dept Neurol & Psychait Sci, Piazza Giulio Cesare, I-70125 Bari, Italy Univ Bari Piazza Giulio CesareBari Italy I-70125 Bari, Italy
Citazione:
T. Perniola et al., "Familial paroxysmal exercise-induced dyskinesia, epilepsy, and mental retardation in a family with autosomal dominant inheritance", MOVEMENT D, 16(4), 2001, pp. 724-730

Abstract

Only few sporadic and familial cases of paroxysmal exercise-induced dyskinesia (PED) have been described in literature. PED associated with familial epilepsy has been rarely reported. We describe a family in which six members in different generations were affected by a long-lasting PED, with childhood onset in five cases: Fasting and stress were also precipitating factors. All the subjects, moreover, showed epileptic seizures during childhood and adolescence. In addition, in all cases a condition of mild mental retardation was also documented, associated in some cases, with irritable and impulsive behaviour. Clinical, neurophysiological, neuroimaging and neuropsychological findings were reported. The homogeneous recurrence of this particular clinical picture in members of three generations emphasised a common genetic basis. In our patients, PED is transmitted as an autosomal dominant trait, with age-dependent penetrance, without evidence of genetic anticipation. The neurophysiological findings suggest a condition of hyperexcitabilityin the muscular and brain membrane, due to a ion channels disorder. (C) 2001 Movement Disorder Society.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 08/04/20 alle ore 11:13:00