Literature DB >> 7565830

A family with hereditary juvenile dystonia-parkinsonism.

A Ishikawa1, T Miyatake.   

Abstract

We report a family with autosomal dominant type hereditary juvenile dystonia-parkinsonism in which eight members in three generations exhibited parkinsonism, sleep benefit, marked efficacy of levodopa, wearing-off phenomenon, and dopa-induced choreic dyskinesia. However, one case showed mainly dystonic movement that worsened after administration of levodopa. The patients in this family showed neck dystonia, such as torticollis and retrocollis, in addition to foot dystonia and other dystonic movement, such as frequently lifting the thigh. From the family history and clinical findings, these patients are considered to have a specific form of hereditary dystonia-parkinsonism.

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Year:  1995        PMID: 7565830     DOI: 10.1002/mds.870100413

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


  4 in total

Review 1.  Genetics of narcolepsy and other sleep disorders.

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Journal:  Am J Hum Genet       Date:  1997-06       Impact factor: 11.025

2.  Successful subthalamic stimulation, but levodopa-induced dystonia, in a genetic Parkinson's disease.

Authors:  Alessandro Stefani; Francesco Marzetti; Mariangela Pierantozzi; Simona Petrucci; Enrica Olivola; Salvatore Galati; Mario Stampanoni Bassi; Paola Imbriani; Enza Maria Valente; Francesco Saverio Pastore
Journal:  Neurol Sci       Date:  2012-03-22       Impact factor: 3.307

Review 3.  Cervical dystonia pathophysiology and treatment options.

Authors:  M Velickovic; R Benabou; M F Brin
Journal:  Drugs       Date:  2001       Impact factor: 9.546

4.  Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.

Authors:  Chong-Yao Jin; Ran Zheng; Zhi-Hao Lin; Nai-Jia Xue; Ying Chen; Ting Gao; Yi-Qun Yan; Yi Fang; Ya-Ping Yan; Xin-Zhen Yin; Jun Tian; Jia-Li Pu; Bao-Rong Zhang
Journal:  BMC Neurol       Date:  2021-05-08       Impact factor: 2.474

  4 in total

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