| First Author | Jinnah HA | Year | 1990 |
| Journal | Brain Res Bull | Volume | 25 |
| Issue | 3 | Pages | 467-75 |
| PubMed ID | 2292045 | Mgi Jnum | J:2057 |
| Mgi Id | MGI:50581 | Doi | 10.1016/0361-9230(90)90239-v |
| Citation | Jinnah HA, et al. (1990) Animal models of Lesch-Nyhan syndrome. Brain Res Bull 25(3):467-75 |
| abstractText | In humans, deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) is associated with a disorder known as Lesch-Nyhan syndrome which includes severe neurobehavioral abnormalities. Several animal models which have been developed to examine the neurobiologic substrates of this disorder have suggested a role for abnormal function in purine/dopamine neurotransmission, but the relationship between HPRT-deficiency and these abnormalities remains unknown. Recently, HPRT-deficient mice have been produced which appear to have similar, though more subtle changes in brain dopamine function. These mice will be useful in elucidating the relationship between HPRT-deficiency and the neurological deficits observed in patients with this disorder. |
