The motor disorder of classic Lesch-Nyhan disease

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

doi:10.1081/NCN-200027432

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 journal › Article › peer-review

4 Scopus citations

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 language	English (US)
Pages (from-to)	1161-1164
Number of pages	4
Journal	Nucleosides, Nucleotides and Nucleic Acids
Volume	23
Issue number	8-9
DOIs	https://doi.org/10.1081/NCN-200027432
State	Published - 2004
Externally published	Yes

Keywords

Ballismus and rigidity
Choreoathetosis
Dystonia

ASJC Scopus subject areas

Biochemistry
Molecular Medicine
Genetics

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10.1081/NCN-200027432

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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.",

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AB - 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.

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The motor disorder of classic Lesch-Nyhan disease

Abstract

Keywords

ASJC Scopus subject areas

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