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Biomedical subjects

S Bressman

Publications and source records attributed to S Bressman.

9 recordsLinked to original sources
PubMed1995

Dystonia in a patient with deletion of 18q.

This is the first reported case of dystonia with a partial deletion of the long arm (q) of chromosome 18. Neurologic findings in the 18q- syndrome include mental retardation, seizures, nystagmus, incoordination, tremor, and chorea. A 36-year-old woman with an 18q terminal deletion [karyotype 46,XX,del(18)(q22.2)] had hypothyroidism, diabetes mellitus, borderline intelligence, short stature, short neck, sensorineural hearing loss, and sensorimotor axonal neuropathy. Parents' karyotypes were normal. She had had incoordination and writing difficulty since childhood. Posturing and tremor of the head began at age 16, followed by arm tremors. She had jaw deviation and tremor, neck tremor with retrocollis, involuntary pronation of the right arm, coarse postural and severe action tremor, and tight pen grip with dystonic wrist extension on writing. The 18q- syndrome should be added to the list of genetic causes of secondary dystonia. A karyotype analysis should be considered in secondary dystonias, particularly when there are associated features such as short stature and endocrinopathies.

Adult↗
PubMed1995

Genetic analysis of idiopathic torsion dystonia in Ashkenazi Jews and their recent descent from a small founder population.

We have examined data on six closely linked microsatellite loci on chromosome 9q34 from 59 Ashkenazi Jewish families with idiopathic torsion dystonia (ITD). Our data show that the vast majority (> 90%) of early-onset ITD cases in the Ashkenazi population are due to a single founder mutation, which we estimate first appeared approximately 350 years ago. We also show that carriers preferentially originate from the northern part of the historic Jewish Pale of settlement (Lithuania and Byelorussia). The recent origin of this dominant mutation and its current high frequency (between 1/6,000 and 1/2,000) suggest that the Ashkenazi population descends from a limited group of founders, and emphasize the importance of genetic drift in determining disease allele frequencies in this population.

Alleles↗
PubMed1988

Clonazepam, haloperidol, and clonidine in tic disorders.

We reviewed the treatment outcomes of 81 patients with multifocal tic disorders followed in our movement disorders clinic. From the three drugs used, rank orders of effectiveness were haloperidol, clonazepam, and clonidine. Because of the risk of tardive dyskinesia, we suggest first a trial with clonazepam, later combined with clonidine if clonazepam alone is not effective. Haloperidol should be reserved for the most disabling cases, and given only after trials with both clonazepam and clonidine have failed.

Child↗
PubMed1986

Essential myoclonus.

The clinical characteristics of 15 patients with essential myoclonus are evaluated. The course of illness was one of initial worsening followed by a stable or improved state. Only two patients had positive family histories of involuntary movements. Nine patients had segmental distribution despite a careful search for etiology; in two of these patients, myoclonus was rhythmic. The trunk and proximal limbs were the most frequently affected body regions. Clonazepam improved myoclonus in 10 of 13 patients, two of whom had complete resolution of symptoms. On review of the salient features of the myoclonus, we discerned four phenomenological subcategories: (a) oscillatory myoclonus, (b) rhythmic segmental myoclonus, (c) nonrhythmic segmental myoclonus, and (d) nonrhythmic multifocal myoclonus.

Adolescent↗
PubMed1986

Biotin-responsive encephalopathy with myoclonus, ataxia, and seizures.

Prominent neurological abnormalities, including myoclonus, seizures, ataxia, and hearing loss, have been noted in juvenile-onset biotin-responsive MCD. The underlying defect in many of these patients, who generally present in the first year of life, appears to be a deficiency of biotinidase. We have presented a young woman with adult-onset myoclonus, ataxia, hearing loss, seizures, hemianopia, and hemiparesis who responded to pharmacologic dosages of biotin. Although she displayed many of the clinical and biochemical features of juvenile-onset MCD, she did not have a biotinidase deficiency, and the underlying defect remains to be determined. Because of her response to biotin, we have advocated that other patients with unexplained myoclonus syndromes be evaluated for biotin-dependent carboxylase deficiencies and undergo a therapeutic trial with biotin.

Adult↗
PubMed1985

Acetylcholinesterase activity in patients with torsion dystonia. Measurement in erythrocyte membranes.

Anticholinergic therapy provides symptomatic relief in many patients with dystonia. The mechanism underlying this therapeutic action is poorly understood; however, one possibility is that the degradation of acetylcholine is perturbed in these conditions. To investigate this possibility, acetylcholinesterase activity was measured in erythrocyte membranes from healthy volunteers and patients with torsion dystonia. Enzyme activities in erythrocytes from 14 patients with adult-onset, childhood-onset idiopathic, and childhood-onset familial dystonias did not differ significantly from activities measured in erythrocyte membranes from 17 healthy volunteers. Moreover, when blood samples from several members of a family with dominant inheritance of dystonia were assayed simultaneously, similar enzyme activities were found in the affected and unaffected individuals. The data suggest that a generalized acetylcholinesterase deficiency is not involved in the pathogenesis of torsion dystonia.

Acetylcholinesterase↗
PubMed1982

Subcortical neglect.

Unilateral neglect is usually caused by lesions of the right cerebral cortex, especially parietal. Neglect after subcortical lesions has been reported rarely in thalamic or striatal hemorrhage, and after infarction of thalamus or striatum and internal capsule shown by CT. In these patients, there may have been compression or ischemia of overlying cerebral cortex and white matter. We report a patient with sensory hemineglect, asomatognosia, and anosognosia caused by infarction of striatum and deep white matter, with involvement of neither cortex nor thalamus and without mass effect. This is the first autopsy-confirmed example of human neglect with involvement of only the striatum and deep white matter.

Aged↗
PubMed1981

Symmetric sarcoid polyneuropathy: analysis of a sural nerve biopsy.

A 20-year-old woman with sarcoidosis had uveitis, subacute symmetric sensorimotor neuropathy, and noncaseous granulomas in biopsies of gastrocnemius muscle and sural nerve. Morphologic studies of the nerve confirmed the electrodiagnostic impression of an acute axonal and demyelinating neuropathy. Of 100 teased myelinated nerve fibers, 15% contained myelin ovoids and 24% demonstrated segmental demyelination. Quantitative analysis showed a reduction in the numerical density of myelinated fibers. By electronmicroscopy, unmyelinated fibers were largely spared. The exact mechanism of nerve fiber damage was not determined, but a local effect of the granuloma seemed likely, because most lesions were found in the endoneurium.

Adult↗