Delineation of the motor disorder of Lesch-Nyhan disease

H. A. Jinnah, Jasper E. Visser, James C O Harris, Alfonso Verdu, Laura Larovere, Irene Ceballos-Picot, Pedro Gonzalez-Alegre, Vladimir Neychev, Rosa J. Torres, Olivier Dulac, Isabelle Desguerre, David Schretlen, Kenneth L. Robey, Gabor Barabas, Bastiaan R. Bloem, William Nyhan, Raquel De Kremer, Gary E. Eddey, Juan G. Puig, Stephen G. Reich

Research output: Contribution to journalArticle

Abstract

Lesch-Nyhan disease (LND) is caused by deficiency of the purine salvage enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT). Affected individuals exhibit over-production of uric acid, along with a characteristic neurobehavioural syndrome that includes mental retardation, recurrent self-injurious behaviour and motor disability. Prior studies involving relatively small numbers of patients have provided different conclusions on the nature of the motor disorder. The current study includes the results of a multi-centre international prospective study of the motor disorder in the largest cohort of patients studied to date. A total of 44 patients ranging from 2 to 38 years presented a characteristic motor syndrome that involved severe action dystonia superimposed on baseline hypotonia. Although some patients also displayed other extrapyramidal or pyramidal signs, these were always less prominent than dystonia. These results are compared with a comprehensive review of 122 prior reports that included a total of 254 patients. Explanations for the differing observations available in the literature are provided, along with a summary of how the motor disorder of LND relates to current understanding of its pathophysiology involving the basal ganglia.

Original languageEnglish (US)
Pages (from-to)1201-1217
Number of pages17
JournalBrain
Volume129
Issue number5
DOIs
StatePublished - May 2006

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Lesch-Nyhan Syndrome
Dystonia
Hypoxanthine Phosphoribosyltransferase
Self-Injurious Behavior
Muscle Hypotonia
Uric Acid
Basal Ganglia
Intellectual Disability
Motor Disorders
Prospective Studies
Enzymes

Keywords

  • Cerebral palsy
  • Choreoathetosis
  • Dystonia
  • Neurogenetics

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Jinnah, H. A., Visser, J. E., Harris, J. C. O., Verdu, A., Larovere, L., Ceballos-Picot, I., ... Reich, S. G. (2006). Delineation of the motor disorder of Lesch-Nyhan disease. Brain, 129(5), 1201-1217. https://doi.org/10.1093/brain/awl056

Delineation of the motor disorder of Lesch-Nyhan disease. / Jinnah, H. A.; Visser, Jasper E.; Harris, James C O; Verdu, Alfonso; Larovere, Laura; Ceballos-Picot, Irene; Gonzalez-Alegre, Pedro; Neychev, Vladimir; Torres, Rosa J.; Dulac, Olivier; Desguerre, Isabelle; Schretlen, David; Robey, Kenneth L.; Barabas, Gabor; Bloem, Bastiaan R.; Nyhan, William; De Kremer, Raquel; Eddey, Gary E.; Puig, Juan G.; Reich, Stephen G.

In: Brain, Vol. 129, No. 5, 05.2006, p. 1201-1217.

Research output: Contribution to journalArticle

Jinnah, HA, Visser, JE, Harris, JCO, Verdu, A, Larovere, L, Ceballos-Picot, I, Gonzalez-Alegre, P, Neychev, V, Torres, RJ, Dulac, O, Desguerre, I, Schretlen, D, Robey, KL, Barabas, G, Bloem, BR, Nyhan, W, De Kremer, R, Eddey, GE, Puig, JG & Reich, SG 2006, 'Delineation of the motor disorder of Lesch-Nyhan disease', Brain, vol. 129, no. 5, pp. 1201-1217. https://doi.org/10.1093/brain/awl056
Jinnah HA, Visser JE, Harris JCO, Verdu A, Larovere L, Ceballos-Picot I et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006 May;129(5):1201-1217. https://doi.org/10.1093/brain/awl056
Jinnah, H. A. ; Visser, Jasper E. ; Harris, James C O ; Verdu, Alfonso ; Larovere, Laura ; Ceballos-Picot, Irene ; Gonzalez-Alegre, Pedro ; Neychev, Vladimir ; Torres, Rosa J. ; Dulac, Olivier ; Desguerre, Isabelle ; Schretlen, David ; Robey, Kenneth L. ; Barabas, Gabor ; Bloem, Bastiaan R. ; Nyhan, William ; De Kremer, Raquel ; Eddey, Gary E. ; Puig, Juan G. ; Reich, Stephen G. / Delineation of the motor disorder of Lesch-Nyhan disease. In: Brain. 2006 ; Vol. 129, No. 5. pp. 1201-1217.
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