Literature DB >> 15133824

Sporadic case of dentatorubral pallidoluysian atrophy with no CAG repeat expansion and no intranuclear inclusions.

Renato P Munhoz1, Catherine Bergeron, Anthony E Lang.   

Abstract

We present a patient with a 14-year course beginning at the age of 44 years with hemidystonia followed by generalized choreoathetosis, behavioral, and oculomotor disturbances. Family history and genetic testing were unrevealing. Neuropathological findings were identical to genetic dentatorubral pallidoluysian (DRPLA) except for the lack of intranuclear inclusions. Copyright 2003 Movement Disorder Society

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Year:  2004        PMID： 15133824     DOI： 10.1002/mds.10674

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


  3 in total

1.  Case of a Man with Hemichorea and Behavioral Changes: "A Red Herring".

Authors:  Galit Kleiner; Stephen A Ryan; Juan Bilbao; Julia Keith; Ekaterina Rogaeva; Sandra E Black; Anthony E Lang; Mario Masellis
Journal:  Mov Disord Clin Pract       Date:  2022-03-30

2.  Dentatorubro-Pallidoluysian Atrophy (DRPLA) among 700 Families with Ataxia in Brazil.

Authors:  Pedro Braga-Neto; José Luiz Pedroso; Gabriel Vasata Furtado; Tailise Conte Gheno; Maria Luiza Saraiva-Pereira; Laura Bannach Jardim; Orlando G P Barsottini
Journal:  Cerebellum       Date:  2017-08       Impact factor: 3.847

3.  DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder.

Authors:  Aiysha Chaudhry; Alkyoni Anthanasiou-Fragkouli; Henry Houlden
Journal:  J Neurol       Date:  2020-10-26       Impact factor: 4.849
  3 in total

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