Early onset ataxia with comorbid dystonia: clinical, anatomical and biological pathway analysis expose shared pathophysiology

HIGHLIGHTS

  • who: Deborah A. Sival and colleagues from the Department of Paediatric Neurology, Beatrix Children's Hospital, University Medical Center Groningen have published the article: Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology, in the Journal: (JOURNAL) of 11/07/2012
  • what: The authors hypothesized that the underlying genetic mechanisms for EOAD+ could both involve: shared pathways inducing a specific EOAD+ phenotype, and/or non-specifically shared pathways by genes that may be concurrently expressed in EOA, AOA and dystonia, inducing comorbid features. In the future, the authors aim . . .

     

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