Literature DB >> 10751926

Juvenile Huntington's disease confirmed by genetic examination in twins.

G Levy1, M E Nobre, V T Cimini, S Raskin, E Engelhardt.   

Abstract

Early-onset Huntington's disease (HD) occurs in approximately 10% of HD's cases. We report juvenile HD in phenotypically identical twins, evaluated by history, clinical and neurologic examination, minimental state examination, blood laboratory exams, cerebrospinal fluid examination, skull computed tomography, and genetic examination for HD. Patients had the akinetic-rigid variety (Westphal variant) of the disease and paternal inheritance. The laboratory workup confirmed the clinical diagnosis of HD, which adds this report to the rare cases of HD in twins reported in the literature.

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Year:  1999        PMID: 10751926     DOI: 10.1590/s0004-282x1999000500022

Source DB:  PubMed          Journal:  Arq Neuropsiquiatr        ISSN: 0004-282X            Impact factor:   1.420


  2 in total

Review 1.  Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

Authors:  Shi-Shuang Cui; Ru-Jing Ren; Ying Wang; Gang Wang; Sheng-Di Chen
Journal:  BMC Neurol       Date:  2017-08-08       Impact factor: 2.474

2.  Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Authors:  Suran Nethisinghe; Wei N Lim; Heather Ging; Anna Zeitlberger; Rosella Abeti; Sally Pemble; Mary G Sweeney; Robyn Labrum; Charisse Cervera; Henry Houlden; Elisabeth Rosser; Patricia Limousin; Angus Kennedy; Michael P Lunn; Kailash P Bhatia; Nicholas W Wood; John Hardy; James M Polke; Liana Veneziano; Alfredo Brusco; Mary B Davis; Paola Giunti
Journal:  Front Cell Neurosci       Date:  2018-11-23       Impact factor: 5.505

  2 in total

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