Subject(s)
Attention Deficit Disorder with Hyperactivity/genetics , Chromosomes, Human, Pair 1 , Chromosomes, Human, Pair 8 , Obsessive-Compulsive Disorder/genetics , Tics/genetics , Tourette Syndrome/genetics , Translocation, Genetic , Child , Chromosome Mapping , Female , Humans , Male , Nuclear Family , PedigreeABSTRACT
We examined a panel of 21 patients diagnosed with compulsive buying for two DNA sequence polymorphisms found in the gene that encodes the serotonin transport (5-HTT). One polymorphism, found in the promoter region of the 5-HTT gene, involves a 44-base pair (bp) deletion, and the other, found in the second intron, is due to variable numbers of a repeat sequence. We also typed a panel of 38 psychiatrically normal controls for both 5-HH markers. When compared to this control panel, no significant differences were seen for either 5-HTT marker among the compulsive buyers.
Subject(s)
Carrier Proteins/genetics , Compulsive Behavior/genetics , Membrane Glycoproteins/genetics , Membrane Transport Proteins , Nerve Tissue Proteins , Polymorphism, Genetic , Alleles , Female , Genotype , Humans , Male , Serotonin Plasma Membrane Transport ProteinsABSTRACT
The serine hydroxymethyltransferase (SHMT) gene family is composed of three distinct loci. The cytosolic (cSHMT) and mitochondrial (mSHMT) genes constitute the functional members of the gene family, while the third member, SHMT-ps1, is a processed pseudogene descended from cSHMT. PCR analysis of 38 primate and nonprimate mammal species indicates that the reverse transcription event that gave rise to SHMT-ps1 might have occurred after the divergence of the primates from the rest of the mammals. In addition, direct sequencing of primate PCR products has revealed several features--including two deletions, an insertion, and two single base mutations--that are unique to specific phylogenetic branches of the order Primates. These unique features make the SHMT-ps1 locus a useful marker in molecular studies of the primates.
Subject(s)
Glycine Hydroxymethyltransferase/genetics , Isoenzymes/genetics , Phylogeny , Primates/genetics , Pseudogenes/genetics , Animals , Base Sequence , DNA Transposable Elements , Genetic Markers , Molecular Sequence Data , Polymerase Chain Reaction , Transcription, GeneticABSTRACT
The D3-dopamine receptor gene, DRD3, has been considered as a candidate gene in several disorders in which the dopaminergic system has been implicated including Tourette syndrome and schizophrenia. The DRD3 studies to date have all used as the gene marker a Bal I polymerase chain reaction restriction fragment length polymorphism (PCR RFLP). There have been recent reports on a second marker, an Msp I PCR RFLP, that lies 40 kb downstream. We have typed a sample of 16 Tourette syndrome families with both markers and observed significant linkage disequilibrium between the two markers but no apparent association of either marker with Tourette syndrome.
Subject(s)
Deoxyribonuclease HpaII/genetics , Deoxyribonucleases, Type II Site-Specific/genetics , Linkage Disequilibrium/genetics , Polymorphism, Restriction Fragment Length , Receptors, Dopamine D2/genetics , Tourette Syndrome/genetics , Female , Humans , Male , Receptors, Dopamine D3ABSTRACT
ABSTRACT Two new cases are reported of persistent tardive dyskinesia associated with neuroleptic treatment of patients with Tourette's disorder. Previously, 44 cases were described in 8 published reports, including 36 children and adolescents, but diagnostic criteria were infrequently specified. In our review of these cases, using the criteria of Schooler and Kane but modified by Gualtieri's more conservative duration criteria of 16 weeks, only 2 of these cases were consistent with a diagnosis of persistent tardive dyskinesia. The 2 new cases are reported here. A 12-year-old, who was treated with haloperidol 4 mg daily since the age of 8, developed fine vermicular movements of the tongue of moderate severity. Despite discontinuation of the neuroleptic, symptoms of tardive dyskinesia still persisted at age 15 and were associated with difficulty in speech production. A 42-year-old, who was treated with haloperidol 1 mg three times daily for 7 years, developed jaw movements and lip smacking that persisted for more than 2 years. Abnormal involuntary movement scale (AIMS) ratings supported a diagnosis of tardive dyskinesia in both patients with Tourette's disorder. The identification of tardive dyskinesia in the setting of a preexisting movement disorder is discussed. Features that helped distinguish the movements of tardive dyskinesia and Tourette's disorder in these patients included the premonitory urges of Tourette's symptoms and a differential response of the symptoms to distracting voluntary motor tasks. Clinicians should be attentive and thorough in searching for symptoms of tardive dyskinesia following treatment with relatively low doses of haloperidol in patients with Tourette's disorder.
ABSTRACT
This open pilot study explored the efficacy and safety of pimozide, over a 3-week period, in hospitalized autistic children. Eight males, ages 4.2 to 8.3 years, completed the study. Intellectual functioning ranged from moderate to profound mental retardation. Symptoms included severe withdrawal, stereotypies, hyperactivity and/or hypoactivity, aggressiveness, and temper tantrums. Therapeutic daily doses of pimozide ranged from 3.0 mg to 6.0 mg with a mean of 4.9 mg (0.12-0.32 mg/kg; mean, 0.22). Laboratory studies including electrocardiogram and liver function tests remained within normal limits. Untoward effects were minimal and transient. Decreases of behavioral symptoms were evidenced on all measures including the Children's Psychiatric Rating Scale, Clinical Global Impressions, and Global Clinical Judgments Scale (consensus rating). Of the 5 hypoactive children, 4 showed a decrease in hypoactivity, whereas 1 child showed worsening. These findings are promising and indicate the need for further study.
