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Titolo:
Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration
Autore:
Nomura, Y; Ikeuchi, T; Tsuji, S; Segawa, M;
Indirizzi:
Segawa Neurol Clin Children, Chiyoda Ku, Tokyo 1010062, Japan Segawa Neurol Clin Children Tokyo Japan 1010062 Ku, Tokyo 1010062, Japan Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan Niigata Univ Niigata Japan 951 Res Inst, Dept Neurol, Niigata 951, Japan
Titolo Testata:
BRAIN & DEVELOPMENT
, , anno: 2000, supplemento:, 1
pagine: S92 - S101
SICI:
0387-7604(200009):<S92:TPAAOI>2.0.ZU;2-X
Fonte:
ISI
Lingua:
ENG
Soggetto:
ASHKENAZI JEWS; WRITERS CRAMP; GENE DYT1; MUTATION; EXPRESSION; FAMILY;
Keywords:
early onset torsion dystonia; torsion dystonia; Japanese; postural dystonia; action dystonia; anticipation;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
24
Recensione:
Indirizzi per estratti:
Indirizzo: Nomura, Y Segawa Neurol Clin Children, Chiyoda Ku, 2-8 Surugadai Kanda, Tokyo 1010062, Japan Segawa Neurol Clin Children 2-8 Surugadai Kanda Tokyo Japan 1010062
Citazione:
Y. Nomura et al., "Two phenotypes and anticipation observed in Japanese cases with early onset torsion dystonia (DYT1) - pathophysiological consideration", BRAIN DEVEL, 2000, pp. S92-S101

Abstract

Early onset torsion dystonia (DYT1) is a dominantly inherited dystonia caused by a deletion of three bases, GAG, coding glutamic acid, in chromosome 9q34. The protein coded by this gene was named as torsin A. DYT1 is common among the Ashkenazi Jewish population, but has been thought to be rare among Japanese. Among the idiopathic torsion dystonias being followed in this clinic, we found five families with DYT1 by gene analysis. This is the firstreport of genetically proven Japanese DYT1. The clinical features of five proband cases were divided into two types. One type is postural dystonia with marked trunkal torsion, and the other is action dystonia associated withviolent dyskinetic movements. The affected family members in the upper generations presented with focal or segmental dystonia; it was postural dystonia of the legs in the former, and writer's cramp or tremor of the arms in the latter families. There was an asymptomatic carrier in the upper generation. Anticipation in the age of onset and severity of the disease was observed in all families. Medical treatment, including anticholinergics and levodopa, did not show apparent effects, while stereotactic thalamotomy to the nucleus ventralis lateralis (VL) or ventralis intermedius (Vim), with or without posterior ventral pallidotomy, were effective with action dystonia, but not postural dystonia. This study suggests the existence of at least two phenotypes in DYT1, in which different pathways of the basal ganglia an involved. (C) 2000 Elsevier Science B.V. All rights reserved.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 02/10/20 alle ore 01:35:00