Literature DB >> 16925544

Juvenile Huntington disease.

Nimeshan Geevasinga1, Fiona H Richards, Kristi J Jones, Monique M Ryan.   

Abstract

Huntington disease (HD) is a dominantly inherited neurodegenerative disorder related to expansion of a triplet repeat sequence in the huntington gene on chromosome 4. Adult HD usually presents with chorea and personality changes. Juvenile HD is far less common and presents with parkinsonism, dystonia and seizures. We report a case of juvenile HD, showing extreme anticipation, in which diagnosis was delayed because of failure to recognise the significance of the family history and the characteristic clinical and radiologic features of this condition.

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Year:  2006        PMID： 16925544     DOI： 10.1111/j.1440-1754.2006.00921.x

Source DB:  PubMed          Journal:  J Paediatr Child Health        ISSN： 1034-4810            Impact factor:   1.954


  11 in total

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Review 2.  Neurological Disorders Associated with Striatal Lesions: Classification and Diagnostic Approach.

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Journal:  Curr Neurol Neurosci Rep       Date:  2016-06       Impact factor: 5.081

Review 3.  Progress in developing transgenic monkey model for Huntington's disease.

Authors:  Brooke R Snyder; Anthony W S Chan
Journal:  J Neural Transm (Vienna)       Date:  2017-11-10       Impact factor: 3.575

Review 4.  Development of Research on Huntington Disease in China.

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5.  Excessive blinking as an initial manifestation of juvenile Huntington's disease.

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6.  Pathogenic cellular phenotypes are germline transmissible in a transgenic primate model of Huntington's disease.

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7.  Progressive cognitive deficit, motor impairment and striatal pathology in a transgenic Huntington disease monkey model from infancy to adulthood.

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Review 8.  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

9.  Clinical and Genetic Profiles in Chinese Patients with Huntington's Disease: A Ten-year Multicenter Study in China.

Authors:  Hong-Lei Li; Xiao-Yan Li; Yi Dong; Yan-Bin Zhang; Hong-Rong Cheng; Shi-Rui Gan; Zhi-Jun Liu; Wang Ni; Jean-Marc Burgunder; X William Yang; Zhi-Ying Wu
Journal:  Aging Dis       Date:  2019-10-01       Impact factor: 6.745

10.  A two years longitudinal study of a transgenic Huntington disease monkey.

Authors:  Anthony Ws Chan; Yan Xu; Jie Jiang; Tayeb Rahim; Dongming Zhao; Jannet Kocerha; Tim Chi; Sean Moran; Heidi Engelhardt; Katherine Larkin; Adam Neumann; Haiying Cheng; Chunxia Li; Katie Nelson; Heather Banta; Stuart M Zola; Francois Villinger; Jinjing Yang; Claudia M Testa; Hui Mao; Xiaodong Zhang; Jocelyne Bachevalier
Journal:  BMC Neurosci       Date:  2014-03-03       Impact factor: 3.288
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