Regional brain volume abnormalities in Lesch-Nyhan disease and its variants: A cross-sectional study

The Lancet Neurology

Volumn 12, Issue 12, 2013, Pages 1151-1158

  Schretlen, David J ^a   Varvaris, Mark ^a   Ho, Tiffany E ^a   Vannorsdall, Tracy D ^a   Gordon, Barry ^a,b   Harris, James C ^a   Jinnah, H A ^c  

^a JOHNS HOPKINS UNIVERSITY SCHOOL OF MEDICINE   (United States)

^b JOHNS HOPKINS UNIVERSITY   (United States)

^c EMORY UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

HYPOXANTHINE PHOSPHORIBOSYLTRANSFERASE;

ADULT; ANALYSIS OF COVARIANCE; ARTICLE; BASAL GANGLION; BRAIN SIZE; CLINICAL ARTICLE; CORPUS STRIATUM; CROSS-SECTIONAL STUDY; FEMALE; GRAY MATTER; HUMAN; LESCH NYHAN SYNDROME; LIMBIC SYSTEM; MALE; PATIENT REFERRAL; PRECUNEUS; PRIORITY JOURNAL; TEMPORAL LOBE; TONGUE; VOXEL BASED MORPHOMETRY; WHITE MATTER; ADOLESCENT; BRAIN; BRAIN CORTEX; CLASSIFICATION; COMPARATIVE STUDY; MIDDLE AGED; NUCLEAR MAGNETIC RESONANCE IMAGING; ORGAN SIZE; PATHOLOGY; PHENOTYPE; YOUNG ADULT;

ADOLESCENT; ADULT; BASAL GANGLIA; BRAIN; CEREBRAL CORTEX; CROSS-SECTIONAL STUDIES; FEMALE; HUMANS; LESCH-NYHAN SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; MIDDLE AGED; ORGAN SIZE; PHENOTYPE; YOUNG ADULT;

EID: 84887613162     PISSN: 14744422     EISSN: 14744465     Source Type: Journal    
DOI: 10.1016/S1474-4422(13)70238-2     Document Type: Article

References (32)

1. Lesch M, Nyhan WL Familial disorder of uric acid metabolism and central nervous system function. Am J Med 1964, 36:561-570.
2. Schretlen DJ, Harris JC, Park KS, Jinnah HA, Del Pozo NO Neurocognitive functioning in Lesch-Nyhan disease and partial hypoxanthine-guanine phosphoribosyltransferase deficiency. J Int Neuropsychol Soc 2001, 7:805-812.
3. Schretlen DJ, Ward J, Meyer SM, et al. Behavioral aspects of Lesch-Nyhan disease and its variants. Dev Med Child Neurol 2005, 47:673-677.
4. Anderson LT, Ernst M Self-injury in Lesch-Nyhan disease. J Autism Dev Disord 1994, 24:67-81.
5. Jinnah HA, Visser JE, Harris JC, et al. Delineation of the motor disorder of Lesch-Nyhan disease. Brain 2006, 129:1201-1217.
6. Fu R, Ceballos-Picot I, Torres RJ, et al. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder. Brain 2013, published online Aug 22. 10.1093/brain/awt202.
7. Wong DF, Harris JC, Naidu S, et al. Dopamine transporters are markedly reduced in Lesch-Nyhan disease in vivo. Proc Natl Acad Sci USA 1996, 93:5539-5543.
8. Harris JC, Lee RR, Jinnah HA, Wong DF, Yaster M, Bryan RN Craniocerebral magnetic resonance imaging measurement and findings in Lesch-Nyhan syndrome. Arch Neurol 1998, 55:547-553.
9. Ernst M, Zametkin AJ, Matochik JA, et al. Presynaptic dopaminergic deficits in Lesch-Nyhan disease. N Engl J Med 1996, 334:1568-1572.
10. Jinnah HA, Ceballos-Picot I, Torres RJ, et al. Attenuated variants of Lesch-Nyhan disease. Brain 2010, 133:671-689.
11. Maldjian JA, Laurienti PJ, Burdette JB, Kraft RA An automated method for neuroanatomic and cytoarchitectonic atlas-based interrogation of fMRI data sets. Neuroimage 2003, 19:1233-1239.
12. Burke RE, Fahn S, Marsden CD, Bressman SB, Moskowitz C, Friedman J Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 1985, 35:73-77.
13. Kaufman AS, Kaufman NL Kaufman brief intelligence test 2004, American Guidance Services, Circle Pines, MN. 2nd edn.
14. Holdeigel M Cranial computerized tomography in incomplete Lesch-Nyhan syndrome. Radiologe 1987, 27:127-129. (in German).
15. Saito Y, Takashima S Neurotransmitter changes in the pathophysiology of Lesch-Nyhan syndrome. Brain Dev 2000, 22(suppl 1):S122-S131.
16. Hara K, Kashiwamata S, Ogasawara N, et al. A female case of the Leach-Nyhan syndrome. Tohoku J Exp Med 1982, 137:275-282.
17. Hatanaka T, Higashino H, Woo M, Yasuhara A, Sugimoto T, Kobayashi Y Lesch-Nyhan syndrome with delayed onset of self-mutilation: hyperactivity of interneurons at the brainstem and blink reflex. Acta Neurol Scand 1990, 81:184-187.
18. Fattal A, Spirer Z, Zoref-Shani E, Sperling O Lesch-Nyhan syndrome: biochemical characterization of a case with attenuated behavioral manifestation. Enzyme 1984, 31:55-60.
19. Lynch BJ, Noetzel MJ Recurrent coma and Lesch-Nyhan syndrome. Pediatr Neurol 1991, 7:389-391.
20. Salman RA, Glickman RS, Super S Lesch-Nyhan syndrome: report of two cases. J Oral Med 1987, 42:10-13. 66.
21. van Bogaert P, Ceballos I, Desguerre I, Telvi L, Kamoun P, Ponsot G Lesch-Nyhan syndrome in a girl. J Inherit Metab Dis 1992, 15:790-791.
22. Watts RW, Spellacy E, Gibbs DA, Allsop J, McKeran RO, Slavin GE Clinical, post-mortem, biochemical and therapeutic observations on the Lesch-Nyhan syndrome with particular reference to the neurological manifestations. Q J Med 1982, 51:43-78.
23. Taira T, Kobayashi T, Hori T Disappearance of self-mutilating behavior in a patient with Lesch-Nyhan syndrome after bilateral chronic stimulation of the globus pallidus internus. Case report. J Neurosurg 2003, 98:414-416.
24. 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.
25. Visser JE, Baer PR, Jinnah HA Lesch-Nyhan disease and the basal ganglia. Brain Res Rev 2000, 32:449-475.
26. Baumeister AA, Frye GD The biochemical basis of the behavioral disorder in the Lesch-Nyhan syndrome. Neurosci Biobehav Rev 1985, 9:169-178.
27. Nyhan WL Dopamine function in Lesch-Nyhan disease. Environ Health Perspect 2000, 108(suppl 3):409-411.
28. Olson IR, Plotzker A, Ezzyat Y The enigmatic temporal pole: a review of findings on social and emotional processing. Brain 2007, 130:1718-1731.
29. Rolls ET The orbitofrontal cortex and reward. Cereb Cortex 2000, 10:284-294.
30. Berlin HA, Rolls ET, Kischka U Impulsivity, time perception, emotion and reinforcement sensitivity in patients with orbitofrontal cortex lesions. Brain 2004, 127:1108-1126.
31. Sterzer P, Stadler C, Poustka F, Kleinschmidt A A structural neural deficit in adolescents with conduct disorder and its association with lack of empathy. Neuroimage 2007, 37:335-342.
32. Ochsner KN, Ludlow DH, Knierim K, et al. Neural correlates of individual differences in pain-related fear and anxiety. Pain 2006, 120:69-77.