The motor disorder of classic Lesch-Nyhan disease

Nucleosides, Nucleotides and Nucleic Acids

Volumn 23, Issue 8-9, 2004, Pages 1161-1164

  Visser, Jasper E ^a,b   Harris, James C ^b   Barabas, Gabor ^c   Eddey, Gary E ^c   Jinnah, H A ^b  

^a RADBOUD UNIVERSITY MEDICAL CENTER   (Netherlands)

^b JOHNS HOPKINS HOSPITAL   (United States)

^c Matheny Medical and Educational Center   (United States)

Author keywords

Ballismus and rigidity; Choreoathetosis; Dystonia

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ATAXIA; AUTOMUTILATION; BALLISM; CEREBELLAR ATAXIA; CHOREA; CLINICAL ARTICLE; CONFERENCE PAPER; CONGENITAL DISORDER; DISEASE SEVERITY; DYSTONIA; ENZYME DEFICIENCY; EXTRAPYRAMIDAL SYMPTOM; EXTRAPYRAMIDAL SYNDROME; FIBROBLAST CULTURE; HUMAN; HYPERURICEMIA; LESCH NYHAN SYNDROME; MOTOR ACTIVITY; MOTOR DYSFUNCTION; MUSCLE HYPERTONIA; MUSCLE HYPOTONIA; MYOCLONUS; NEUROLOGIC DISEASE; NEUROLOGIC EXAMINATION; PHENOTYPE; PHENOTYPIC VARIATION; PREVALENCE; RIGIDITY; SCORING SYSTEM; SPASTICITY; TREMOR;

HUMANS; LESCH-NYHAN SYNDROME; MUSCLE HYPOTONIA; NEURODEGENERATIVE DISEASES; NEUROMUSCULAR DISEASES;

ATAXIA;

EID: 10344229950     PISSN: 15257770     EISSN: None     Source Type: Journal    
DOI: 10.1081/NCN-200027432     Document Type: Conference Paper

References (4)

1. Lesch, M.; Nyhan, W.L. A familial disorder of uric acid metabolism and central nervous system function. Am. J. Med. 1964, 36, 561-570.
2. Jinnah, H.A.; Friedmann, T. Lesch-Nyhan disease and its variants. In The Metabolic and Molecular Bases of Inherited Disease, 8th Ed.; Scriver, C.R., Beaudet, A.L., Sly, W.S., Valle, D., Eds.; McGraw-Hill: New York, 2000; 2537-2570.
3. Watts, R.W.E.; Spellacy, E.; Gibbs, D.A.; Allsop, J.; McKeran, R.O.; Slavin, G.E. Clinical, post-mortem, biochemical, and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q. J. Med. 1982, 201, 43-78.
4. Visser, J.E.; Baer, P.R.; Jinnah, H.A. Lesch-Nyhan syndrome and the basal ganglia. Brain Res. Rev. 2000, 32, 449-475.