The motor disorder of classic Lesch-Nyhan disease

Jasper E. Visser, James C. Harris, Gabor Barabas, Gary E. Eddey, H. A. Jinnah

Research output: Contribution to journalArticle

Abstract

Reports describing the neurological features of Lesch-Nyhan disease (LND) vary widely, thereby implying the involvement of different neurological substrates. The movement abnormalities in 20 patients with LND were investigated. Dystonia was the most frequent and severe movement disorder. At rest, hypotonia was more frequent than hypertonia. These findings are compatible with basal ganglia dysfunction in LND.

Original languageEnglish (US)
Pages (from-to)1161-1164
Number of pages4
JournalNucleosides, Nucleotides and Nucleic Acids
Volume23
Issue number8-9
DOIs
StatePublished - Dec 23 2004

Keywords

  • Ballismus and rigidity
  • Choreoathetosis
  • Dystonia

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Medicine
  • Genetics

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