Lesch-Nyhan variant: Dystonia, ataxia, near-normal intelligence, and no self-mutilation

Movement Disorders

Volumn 11, Issue 5, 1996, Pages 583-584

  Adler, Charles H ^a   Wrabetz, Lawrence ^b  

^a GRADUATE HOSPITAL   (United States)

^b HOSPITAL OF THE UNIVERSITY OF PENNSYLVANIA   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ALLOPURINOL; HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ATAXIA; AUTOMUTILATION; CASE REPORT; CLINICAL FEATURE; DISEASE CLASSIFICATION; DYSTONIA; ENZYME DEFICIENCY; HUMAN; INTELLIGENCE QUOTIENT; LESCH NYHAN SYNDROME; MALE; NEPHROLITHIASIS; PRIORITY JOURNAL; SHORT SURVEY; SPASTICITY; SPEECH DISORDER;

EID: 0029792210     PISSN: 08853185     EISSN: None     Source Type: Journal    
DOI: 10.1002/mds.870110519     Document Type: Short Survey

References (8)

1. Nyhan WL, Sakati NA. Lesch-Nyhan disease: In: Diagnostic recognition of genetic disease. Philadelphia: Lea and Febiger, 1987:1-8.
2. Gottlieb RP, Koppel MM, Nyhan WL, et al. Hyperuricaemia and choreoathetosis in a child without mental retardation or self-mutilation - a new HPRT variant. J Inherit Metab Dis 1982;5:183-186.
3. Yang TP, Stout JT, Konecki DS, Patel PI, Alford RL, Caskey CT. Spontaneous reversion of novel Lesch-Nyhan mutation by HPRT gene rearrangement. Somat Cell Mol Genet 1988;14:293-303.
4. Nyhan WL, Sakati NA. Hyperuricemia in other HGPRT variants. In: Diagnostic recognition of genetic disease. Philadelphia: Lea and Febiger, 1987:8-15.
5. Mitchell G, McInnes RR. Differential diagnosis of cerebral palsy: Lesch-Nyhan syndrome without self-mutilation. Can Med Assoc J 1984;130:1323-1324.
6. Bakay B, Nissinen E, Sweetman L, Francke U, Nyhan WL. Utilization of purines by an HPRT variant in an intelligent, nonmutilative patient with features of the Lesch-Nyhan syndrome. Pediatr Res 1979;13:1365-1370.
7. Nyhan WL. The Lesch-Nyhan syndrome. In: Vinken PJ, Bruyn GW, Klawans HL, eds. Handbook of clinical neurology, vol. 29. Amsterdam: North Holland, 1977:263-278.
8. Jankovic J, Caskey TC, Stout JT, Butler IJ. Lesch-Nyhan syndrome: a study of motor behavior and cerebrospinal fluid neurotransmitters. Ann Neurol 1988;23:466-469.