Clinical and biochemical observations on three cases of hypoxanthine-guanine phosphoribosyltransferase deficiency.

Bunn, David N.; Moss, I. K.; Nicholls, Anne; Scott, J. T.; Snaith, M L; Watson, Marcus R.

doi:10.1136/ard.34.3.249

Cited by 8 publications

(1 citation statement)

References 19 publications

(8 reference statements)

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“…Finally, there are two case reports of thalamotomy producing little or no improvement (Michener, 1967;Bunn et al, 1975) and another case report describing 30% improvement in dystonia following chronic deep brain stimulation of the globus pallidus in LND (Taira et al, 2003). In the last case, an unexpected benefit was complete elimination of self-injurious behaviours for at least one year.…”

Section: Treatmentmentioning

confidence: 99%

Delineation of the motor disorder of Lesch–Nyhan disease

Jinnah

Visser

Harris

et al. 2006

Brain

231

188

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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.

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Section: Treatmentmentioning

confidence: 99%