Literature DB >> 2057008

Two sisters with generalized dystonia associated with homocystinuria.

A Berardelli1, P D Thompson, M Zaccagnini, O Giardini, P D'Eufemia, R Massoud, M Manfredi.   

Abstract

Two sisters with progressive dystonic syndromes and homocystinuria are presented. The biochemical defect was not accompanied by the typical clinical features of homocystinuria. Magnetic resonance imaging (MRI) revealed bilateral lesions of the basal ganglia. Homocystinuria should be considered among the causes of symptomatic or secondary dystonias associated with basal ganglia lesions.

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Year:  1991        PMID: 2057008     DOI: 10.1002/mds.870060213

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  6 in total

1.  Treatment of extrapyramidal symptoms in a patient with homozygous homocystinuria.

Authors:  A P Burlina; C Edini; A B Burlina
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

Review 2.  Hyperhomocysteinaemia; with reference to its neuroradiological aspects.

Authors:  M van den Berg; M S van der Knaap; G H Boers; C D Stehouwer; J A Rauwerda; J Valk
Journal:  Neuroradiology       Date:  1995-07       Impact factor: 2.804

3.  Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia.

Authors:  Jose Felix Marti-Masso; Javier Ruiz-Martínez; Vladimir Makarov; Adolfo López de Munain; Ana Gorostidi; Alberto Bergareche; Seungtai Yoon; Joseph D Buxbaum; Coro Paisán-Ruiz
Journal:  Hum Genet       Date:  2011-09-13       Impact factor: 4.132

Review 4.  Treatable Inherited Movement Disorders in Children: Spotlight on Clinical and Biochemical Features.

Authors:  Serena Galosi; Francesca Nardecchia; Vincenzo Leuzzi
Journal:  Mov Disord Clin Pract       Date:  2020-02-04

Review 5.  Update on pediatric dystonias: etiology, epidemiology, and management.

Authors:  Emilio Fernández-Alvarez; Nardo Nardocci
Journal:  Degener Neurol Neuromuscul Dis       Date:  2012-04-11

Review 6.  Movement disorders and inborn errors of metabolism in adults: a diagnostic approach.

Authors:  F Sedel; J-M Saudubray; E Roze; Y Agid; M Vidailhet
Journal:  J Inherit Metab Dis       Date:  2008-05-30       Impact factor: 4.750

  6 in total

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