Background. – Presence of A1 allele of the DRD2 gene has been associated with a predisposition for alcoholism although there are limited data about its phenotypic expression in alcoholism. Objectives. – To determine the importance of the A1 allele in clinical variables of alcohol dependence. Methodology. – A sample of 103 alcohol-dependent males was studied. All patients were recruited consecutively from the general hospital and community settings. The diagnostics were made with the structured clinical interview for DSM-III-R (SCID); and the International Personality Disorder Examination (IPDE). Diagnosis of family alcoholism was made by direct interview or with the Research Diagnostic Criteria-Family History (RDC-FH). The Addiction Severity Index (ASI) and the Severity of Alcohol Dependence Scale (SADS) were used to assess alcohol dependence severity. Genotyping was done by polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) methods. Results. – Approximately 39% of the sample carried the A1 allele (A1+ group). This group had higher prevalences of antisocial personality disorder (60% vs. 15.9%); and alcoholism family history (72.5% vs. 52.4%). Also A1+ had early onset alcohol abuse and more drinking problems. The presence of A1+ was the main factor to explain the diagnosis of antisocial personality disorder, but the weight of this factor was not sufficient to explain the complications assessed by the ASI. Conclusions. – Our results support the existence of an association between the A1 allele and factors resulting from dopaminergic deficiency, otherwise denominated reward deficiency syndrome.

Background Progressive supranuclear palsy (PSP) is a clinicopathological syndrome related to τ deposits and in linkage disequilibrium with τ polymorphisms. Some rare familial PSP cases have been related to τ gene mutations. Objective To present the clinical, pathological, and molecular data of one family with early-onset autosomal dominant PSP. Design We performed clinical examinations, quantitative neurological tests, positron emission tomographic scans with fluorodopa F 18 and raclopride C 11, analysis of τ mutations, neuropathological examinations, and protein analyses on brain specimens. Results Three family members had PSP confirmed by pathological features in the proband. A novel mutation of τ, G303V, was found in the proband and other family members. τ Isoforms with 4 microtubule-binding repeats were overexpressed in the proband brain. Conclusions The G303V mutation of τ is associated with autosomal dominant PSP. Expression of 4 microtubule-binding repeat τ isoforms is increased in the proband.