Different phenotypes among Lesch-Nyhan variants: Clinical reality or limitation of ascertainment?

Archives of Neurology

Volumn 68, Issue 2, 2011, Pages 270-

  Fu, Rong ^a   Jinnah, Hyder A ^a  

^a EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE; NUCLEOTIDE; URIC ACID;

ENZYME ACTIVITY; EXON; FEMALE; GENE MUTATION; HETEROZYGOTE; HUMAN; LETTER; MALE; PRIORITY JOURNAL; SPASTICITY; URIC ACID URINE LEVEL; X CHROMOSOME; DYSARTHRIA; DYSTONIA; FLEXION CONTRACTURE; LESCH NYHAN SYNDROME; MUSCLE TONE; PHENOTYPE; POINT MUTATION;

EID: 79951539219     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneurol.2010.360     Document Type: Letter

References (5)

1. Sarafoglou K, Grosse-Redlinger K, Boys CJ, et al. Lesch-Nyhan variant syndrome: variable presentation in 3 affected family members. Arch Neurol. 2010;67(6):761-764.
2. Jinnah HA, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP. The spectrum of inherited mutations causing HPRT deficiency: 75 new cases and a review of 196 previously reported cases. Mutat Res. 2000;463(3):309-326.
3. Jinnah HA, Friedmann T. Lesch-Nyhan disease and its variants. In: Scriver CR, Beaudet AL, Sly WS, eds, et al. The Metabolic and Molecular Bases of Inherited Disease. New York, NY: McGraw-Hill; 2001:2537-2570.
4. Jinnah HA, Visser JE, Harris JC, et al; Lesch-Nyhan Disease International Study Group. Delineation of the motor disorder of Lesch-Nyhan disease. Brain. 2006;129(pt 5):1201-1217.
5. Jinnah HA, Ceballos-Picot I, Torres RJ, et al; Lesch-Nyhan Disease International Study Group. Attenuated variants of Lesch-Nyhan disease. Brain. 2010;133(pt 3):671-689.