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Biomedical subjects

R Kurlan

Publications and source records attributed to R Kurlan.

107 records · Page 6Linked to original sources
PubMed1987

Hereditary myoclonus and chorea: the spectrum of hereditary nonprogressive hyperkinetic movement disorders.

We report three members of a single family who developed a newly described combination of myoclonus and chorea in association with mild ataxia. The occurrence of this and related syndromes suggests that inherited, slowly progressive myoclonus, chorea, and dystonia, alone or in combination, should be viewed as a spectrum of hyperkinetic involuntary movements, and that each motor component may represent variable expression of the same genetic defect.

Adult↗
PubMed1987

Tissue culture evidence for a circulating neurotoxin in Huntington's chorea.

We explored with tissue culture techniques the possibility that a circulating neurotoxin might cause the premature loss of certain populations of neurons that characterizes Huntington's chorea (HC). Explants of striatum from newborn rats were grown in culture media containing 30% by volume of serum from drug-free HC patients or from healthy control subjects. Glutamic acid decarboxylase (GAD), the enzyme which synthesizes gamma-aminobutyric acid (GABA), was later assayed in these explants as an indicator of the health of GABAergic striatal neurons. The sera of 7 of 8 HC patients decreased GAD activity markedly when present as 30% of the tissue culture medium. When present in lower concentration (15%), HC sera either decreased or increased GAD activity in explants. Deproteinization of sera with perchloric acid did not abolish these effects on GAD activity. A depressant effect on GAD activity was detected in the cerebrospinal fluid of 1 of 4 HC patients tested. These experiments suggest the presence of a circulating neurotoxin, possibly excitotoxic to GABAergic striatal interneurons, and probably a small molecule. Identification of this substance could lead to an effective preventive treatment for persons genetically at risk for HC.

Adolescent↗
PubMed1986

Duodenal delivery of levodopa for on-off fluctuations in parkinsonism: preliminary observations.

The pathogenesis of on-off motor fluctuations in parkinsonism remains incompletely understood, but slowed or erratic gastric emptying of orally administered levodopa may be involved. In 3 patients with resistant on-off fluctuations, direct duodenal continuous infusion of levodopa via a nasoduodenal tube resulted in a heightened therapeutic effect, including a reduction in motor fluctuations. In 1 of these patients, continuous duodenal levodopa infusion produced greater benefit than did intermittent duodenal levodopa administration. Direct duodenal delivery of levodopa lessens the problems with gastric emptying and may be suitable for long-term therapy in selected patients with resistant on-off motor fluctuations.

Adult↗
PubMed1986

Familial Tourette's syndrome: report of a large pedigree and potential for linkage analysis.

We studied a large Mennonite kindred affected by chronic motor tics (CMTs) and vocal tics in a probable autosomal dominant pattern. We administered a standardized questionnaire to 69 family members and reviewed our videotapes of 47. Using DSM III criteria and independent ratings, we diagnosed 10 subjects as having definite Tourette's syndrome (TS), 3 with definite CMTs, 15 with probable TS, and 1 with probable CMT. The clinical features of this family are presented. This is the largest known kindred with TS. Permanent lymphoblastoid cell lines have been established from 67 family members for genetic linkage analysis.

Adolescent↗
PubMed1986

Double-blind assessment of potential pergolide-induced cardiotoxicity.

Possible pergolide-induced cardiotoxicity has been reported in open trials. Over a 6-month period of observation, we prospectively analyzed ECGs and 24-hour ambulatory ECG in 23 patients with Parkinson's disease who were randomized in a double-blind fashion to pergolide or placebo treatments. Pergolide therapy was associated with a mild and transient bradycardiac effect, but no clinically significant cardiotoxicity.

Aged↗
PubMed1985

Severe compression neuropathy following sudden onset of parkinsonian immobility.

Prolonged immobility with adoption of unusual fixed body postures may lead to compression neuropathy. Although parkinsonism has not been considered to predispose to nerve compression, we report three patients with Parkinson's disease and on-off motor fluctuations who developed severe compression neuropathy following a sudden onset off period. The stereotyped posture assumed by parkinsonian patients during an off period appears to make them especially prone to injury of the radial nerve in the upper arm and the brachial plexus.

Aged↗
PubMed1985

Long-term experience with pergolide therapy of advanced parkinsonism.

Nine patients with idiopathic Parkinson's disease were treated with pergolide to a daily maintenance dose of 2.2 +/- 0.9 mg (mean +/- SD) for 17.3 +/- 8.3 months. After 1 month, there was an average 68% increase in mobile on-time, but the improvement declined to 30% by 6 months, 23% by 1 year, and virtually disappeared by 18 months of therapy. Pergolide was discontinued in seven patients because of loss of efficacy (4 patients), confusion (1 patient), or myocardial infarction or ventricular ectopy (2 patients). Partial but temporary restoration of mobility was observed in seven patients who were switched to an alternate-day dosing schedule after 9.2 +/- 2.4 months. Two patients with advanced Shy-Drager syndrome were treated with pergolide without benefit.

Aged↗
PubMed1983

Cyanotic congenital heart disease with suspected stroke. Should all patients receive antibiotics?

Two patients with cyanotic congenital heart disease (CHD) and erythremia were seen for abrupt onset of focal neurologic deficits and/or seizure without signs of infection or increased intracranial pressure. Clinical features and initial computed tomography (CT) in both cases suggested stroke. Subsequent CT scans demonstrated cerebral abscess, proved at operation. Review of records of patients with CHD at the University of Rochester (NY) Medical Center from 1965 to 1981 disclosed 12 cases with brain abscess but only two cases with aseptic cerebral infarction. All but one patient with abscess were cyanotic. One third of patients with abscess had a clinical picture suggesting stroke. Clinical or radiologic features of half the cases indicated that cerebral infarction may have led to abscess formation. Diagnosis of brain abscess and immediate antibiotic therapy should be strongly considered in patients with cyanotic CHD who suffer a suspected cerebral infarction.

Adult↗
PubMed1983

Familial paroxysmal dystonic choreoathetosis and response to alternate-day oxazepam therapy.

A patient with familial paroxysmal dystonic choreoathetosis (FPDC) who was only transiently improved on daily benzodiazepine therapy showed sustained benefit from a regimen of alternate-day oxazepam therapy. Our findings confirm that FPDC is responsive to benzodiazepine therapy and suggest that an alternate-day dosing schedule, using a short-acting benzodiazepine, may minimize receptor down regulation and thereby sustain the therapeutic effect.

Athetosis↗
PubMedDate not supplied

Vertebrobasilar ischemia after total repair of tetralogy of Fallot: significance of subclavian steal created by Blalock-Taussig anastomosis. Vertebrobasilar ischemia after correction of tetralogy of Fallot.

Patients who have undergone a Blalock-Taussig anastomosis for treatment of congenital heart disease may have the vascular anatomy of the subclavian steal syndrome. Cerebral ischemia has been reported in such patients, but not when total surgical correction has eliminated other predisposing factors. We report a patient who developed vertebrobasilar insufficiency 31 years after Blalock-Taussig anastomosis and 4 years after total intracardiac repair of tetralogy of Fallot. He had angiographically proven subclavian steal and no other known predisposing factor for cerebral ischemia. This case suggests that symptomatic subclavian steal may be a late risk of surgical treatment of congenital heart disease that leaves the vascular anatomy of subclavian steal intact. Vascular reconstructive surgery can be effective treatment for these patients and may be indicated prophylactically at the time of intracardiac repair if subclavian steal syndrome becomes a more frequently recognized sequela of prior Blalock-Taussig anastomosis.

Adult↗
PubMedDate not supplied

Parkinson's disease: a preliminary study of yohimbine challenge in patients with anxiety.

In this pilot study, we performed an oral yohimbine challenge in 6 patients with Parkinson's disease (PD) and anxiety or depression, 2 parkinsonian patients without psychiatric illness, and 2 healthy control subjects to determine whether patients with Parkinson's disease and anxiety respond to this adrenergic agent in the same way patients with idiopathic anxiety disorders respond. Given the atypical nature of depression in Parkinson's disease (characterized by prominent anxiety), we also wanted to see if patients with Parkinson's disease and depression (but no history of anxiety) are susceptible to yohimbine-induced panic. Parkinsonian patients with anxiety developed panic attacks at frequencies comparable to primary psychiatric patients with panic disorder. The one patient with PD and a history of major depression alone developed a panic attack. Regardless of their history of anxiety or depression, parkinsonian patients demonstrated a vulnerability to yohimbine-induced somatic symptoms.

Aged↗