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Biomedical subjects

S Fahn

Publications and source records attributed to S Fahn.

At least 235 records · Page 13Linked to original sources
PubMed1988

Paroxysmal non-kinesigenic dystonia.

We reviewed the records of all patients with paroxysmal nonkinesigenic dystonia seen at Dystonia Clinical Research Center. Of the total of 25 patients, three subgroups based on etiology were discerned: primary sporadic (7 patients), psychogenic (11 patients), and symptomatic (7 patients). There were no patients with primary paroxysmal dystonia with a family history of a similar disorder. Although many of the characteristics of our sporadic cases were similar to those of familial paroxysmal dystonia reported in the literature, numerous differences were noted including adult onset, female predominance, and variability in the duration and frequency of attacks. In certain cases an overlap with PKC was found. Clonazepam and acetazolamide were effective in several patients.

Age Factors↗
PubMed1988

Tardive dystonia.

We retrospectively reviewed the clinical course and response to treatment of 67 patients with tardive dystonia. The age at onset ranged from 13 to 72 years without predilection to any particular age group or sex. Patients developed tardive dystonia even after relatively short duration of exposure to dopamine antagonists (21% within 1 year). Five of 42 patients withdrawn from these drugs remitted. Overall clinical improvement occurred in 52% of patients. Tetrabenazine and reserpine were most effective (greater than 50% response rate) in controlling dystonia. Anticholinergic drugs diminished dystonia in 46% of patients. In conclusion, this review supports our original concept of tardive dystonia as a subtype of tardive dyskinesia, which is quite disabling, usually persistent, and difficult to treat. Although anticholinergics and dopamine-depleting drugs frequently improved symptoms, treatment with them only rarely led to a remission or satisfactory control of symptoms. The difficulty of treating this condition necessitates reemphasis of one important observation of this study, that this condition may develop early in the course of dopamine antagonist treatment; there is no minimum period of exposure which can be considered safe. These drugs must therefore be used only for correct medical indications, and every attempt should be made to withdraw them at the first sign of dyskinesia, particularly of the dystonic type.

Adolescent↗
PubMed1988

Inheritance of idiopathic torsion dystonia among Ashkenazi Jews.

The mechanism(s) of inheritance of primary dystonia are unclear. An autosomal recessive form among Ashkenazi Jews and an autosomal dominant form among non-Jews have been proposed. However, the patterns of inheritance, particularly among Ashkenazim, are controversial. In this report we have reviewed the literature particularly as it pertains to the mode of inheritance among Ashkenazim. We also report the results of a pilot study of the families of 25 independently ascertained Ashkenazi probands with onset of primary dystonia before age 27 years. A total of 91/98 living first-degree relatives were examined; of these 91, 86 were greater than or equal to 8 years of age at time of examination and were included in our analysis. Overall, 14/86 (16.3%) of first-degree relatives were affected. We found 11.4% (4/35) of parents, 22.2% (8/36) of siblings, and 13.3% (2/15) of offspring were definitely affected. This finding of an approximately equal risk to parents, siblings, and offspring is consistent with autosomal dominant transmission with a minimum penetrance of 32.6%. Our findings do not support autosomal recessive or multifactorial inheritance.

Adolescent↗
PubMed1987

Differential changes in 125I-LSD-labeled 5-HT-2 serotonin receptors in discrete regions of brain in the rat model of persistent dyskinesias induced by iminodipropionitrile (IDPN): evidence from autoradiographic studies.

Chronic administration of iminodipropionitrile (IDPN) to rats causes a persistent behavioral syndrome consisting of lateral and vertical twitches, random circling, hyperactivity, and increased startle response. These abnormalities are almost identical to those seen after acute injection of serotonin agonists and hallucinogenic drugs. The results of our quantitative autoradiographic localization studies comparing the distribution of 125I-lysergic acid diethylamide (LSD)-labeled 5-HT-2 serotonin receptors in slide-mounted sections of IDPN- and saline-treated revealed a number of changes in 5-HT-2 receptors in the brain of IDPN-treated animals. There were significant increases in the density of 5-HT-2 receptors in the frontal cortex, the cingulate cortex, and the claustrum in IDPN-treated rats. In contrast, there were significant decreases in the density of 125I-LSD binding sites in the nucleus accumbens and in the ventral region of the striatum. The present data provide further evidence to support the notion that the serotonergic system is involved in the manifestation of the persistent abnormalities induced by IDPN.

Animals↗
PubMed1987

Exclusion of autosomal dominant dystonia gene from large regions of chromosomes 11p, 13q, and 21q by multi-point linkage analysis.

Multi-point linkage analyses of autosomal dominant form of torsion dystonia with linkage groups on chromosomes 11p, 13q, 21q are reported. Analyses are based on family data from a single, large, non-Jewish pedigree. Large portions of chromosomes 11p and 13q, and virtually the entire long arm of chromosome 21 are excluded from linkage with dystonia. Practical aspects of designing multi-point analyses are discussed.

Chromosome Mapping↗
PubMed1987

Continuous intracerebroventricular infusion of dopamine and dopamine agonists through a totally implanted drug delivery system in animal models of Parkinson's disease.

We studied the effect of intracerebroventricular infusion of dopamine and dopamine agonists in rat and primate models of Parkinson's disease as an experimental approach to the treatment of levodopa-induced fluctuations. The infusion of dopamine, lisuride, and pergolide into the ventricle ipsilateral to the lesion, by 6-hydroxydopamine, of the nigrostriatal pathway induced a contralateral rotation which was maximal 24-48 h after infusion and whose intensity progressively decreased over the period of 1 week. [3H]Spiperone binding was decreased by the infusion of dopamine but the responses to subcutaneous apomomorphine were unchanged. The infusion of dopamine also restored the levels of monoamines in the rat brain. In chronic reserpized rats, the infusion of dopamine restored brain levels of dopamine but did not reverse akinesia unless monoamine oxidase inhibitors were simultaneously administered, either systemically or intracerebroventricularly. Lisuride and pergolide proved much weaker than dopamine in reversing the effects of reserpine. Intracerebroventricular infusion of dopamine plus deprenyl reversed MPTP induced akinesia in monkeys but the pump used for the delivery was not well tolerated, because of its size, by the animals.

Animals↗