In the past three decades, researchers have been attempting to replace the obsolete concept of homogeneity of alcohol dependence, by classifying these patients into specific heterogeneous subtypes. Based on 30 years of experience and research, the Lesch Typology has proved to be very useful in clinical daily routine. The aim of the Lesch Typology is to provide targeted subtype-specific treatmen...

Edgar Lesch, Heinz H. Poker, Paul Sauer (Hrsgg.), Stuttgart in den ersten Nachkriegsjahren (Veröffentlichungen des Archivs der Stadt Stuttgart, Bd. 66), (Klett-Cotta) 1995. 581 S„ 120 Abb.

ated in normal subjects and in patients with the LeschNyhan syndrome. A significant difference in activity was found between erythrocytes derived from normal controls (1.21±0.47 pmoles/hr per mg protein) and from 15 patients with the Lesch-Nyhan syndrome (6.72 ±6.23 pmoles/hr per mg protein). However, no difference in activity was demonstrable in muscle or leukocytes derived from normal and Les...

In vivo proton spectra for four patients with Lesch-Nyhan disease and four control subjects matched for age and sex were acquired from voxels (1.5 x 1.5 x 1.5 cm3) placed in the prefrontal cortex and striatum. The patients with Lesch-Nyhan disease had decreased metabolites, especially N-acetylaspartate and glutamate/glutamine, only in the prefrontal cortex as compared with the control group. Th...

The relationship between a complete deficiency of the purine enzyme hypoxanthine-guanine phosphoribosyltransferase and the neurobehavioural abnormalities in Lesch-Nyhan disease remains an enigma. In vitro studies using lymphoblasts or fibroblasts have evaluated purine and pyrimidine metabolism with conflicting results. This study focused on pyridine nucleotide metabolism in control and Lesch-Ny...

Autoradiographic demonstration of 3H-hypoxanthine incorporation in small numbers of amniotic fluid cells cultured on coverslips is a rapid and practical technique in the prenatal diagnosis of the Lesch-Nyhan mutation. An affected male fetus, a normal male fetus, and a heterozygous female fetus were identified within 14 days after amniocentesis in three pregancies at risk for the Lesch-Nyhan syn...

Lesch-Nyhan syndrome is caused by the complete deficiency of hypoxanthine guanine phosphoribosyl-transferase (HPRT). By the analysis of genomic DNA and mRNA using the polymerase chain reaction (PCR) technique coupled with direct sequencing, five independent mutations in HPRT genes have been identified in Korean Lesch-Nyhan families. Two novel mutations and three previously reported mutations ha...

The Lesch-Nyhan syndrome is characterized clinically by choreoathetosis, spasticity, selfmutilation, and mental and growth retardation. Biochemically, there is a striking reduction of hypoxanthine-guanine phosphoribosyltransferase (HGPRT) activity in affected individuals. We have examined erythrocytes from 14 patients with the Lesch-Nyhan syndrome for the presence of hypoxanthine-guanine phosph...

AIM This detailed cross-sectional analysis, obtained from a sample of alcohol-dependent patients, attempts to compare multiple methods that have been created to classify or subtype alcoholics. METHODS The sample comprised 318 alcohol-dependent patients recruited from the alcoholism unit (NETER) of the Psychiatric Service of Santa Maria University Hospital in Lisbon (Portugal). All subjects we...