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Biomedical subjects

S Fahn

Publications and source records attributed to S Fahn.

At least 73 records · Page 4Linked to original sources
PubMed1998

Alpha tocopherol in CSF of subjects taking high-dose vitamin E in the DATATOP study. Parkinson Study Group.

Alpha-Tocopherol concentrations were determined in the CSF of patients with early untreated Parkinson's disease receiving 2,000 IU vitamin E orally per day. After treatment the concentrations increased significantly (p < 0.001) by 76+/-10 (SE)%. The net increases in CSF alpha-tocopherol concentrations after treatment showed a significant positive correlation with the number of days of vitamin E ingestion (p < 0.001). Thus, high-dose vitamin E treatment results in elevating CSF vitamin E levels and possibly brain vitamin E levels.

Antioxidants↗
PubMed1998

A multicenter trial of ropinirole as adjunct treatment for Parkinson's disease. Ropinirole Study Group.

OBJECTIVE: To evaluate the nonergot dopamine agonist ropinirole as an adjunct to L-dopa in a randomized, double-blind trial in PD patients with motor fluctuations. BACKGROUND: L-dopa in the treatment of PD is associated with motor fluctuations, dyskinesia, and other adverse effects. The use of dopamine agonists in the treatment of PD delays recourse to L-dopa and thus delays the possibility of adverse effect onset. METHODS: Ropinirole (n = 95) or placebo (n = 54) was added to L-dopa, and L-dopa was then reduced in a planned manner during the 6-month trial. RESULTS: A significantly greater number of ropinirole patients were able to achieve a 20% or greater reduction in both L-dopa dose and in percent time spent "off" compared with placebo (35.0% versus 13.0%; p = 0.003). The mean daily L-dopa dose was reduced significantly with ropinirole treatment (242 mg versus 51 mg; p < 0.001) as was the percent awake time spent "off" (11.7% versus 5.1%; p = 0.039). There was no difference in the percent of patients who withdrew because of adverse effects (15.8% on ropinirole versus 16.7% on placebo). CONCLUSIONS: Ropinirole permits a reduction in L-dopa dose with enhanced clinical benefit for PD patients with motor fluctuations.

Antiparkinson Agents↗
PubMed1997

Polymerase chain reaction-based detection of Tropheryma whippelii in central nervous system Whipple's disease.

Whipple's disease of the central nervous system (CNS) may be associated with normal intestinal histology as a result of minimal or patchy involvement. The diagnosis is difficult and is frequently made post mortem. We studied 6 patients with clinically suspected CNS Whipple's disease; 2 had oculomasticatury myorhythmia (OMM) fitting criteria for a diagnosis of definite CNS Whipple's disease. One of the 2 had duodenal histology highly suggestive of Whipple's disease the other 5 patients had normal duodenal histology. DNA was extracted from paraffin-embedded duodenal tissues in all patients and frozen pontine tissue in 1. Two primer pairs (W3F-W4R, W3F-W2R) were used in separate polymerase chain reactions (PCRs) to amplify fragments of Tropberyma whippelii 16S rDNA from these tissue samples. PCR amplicons were detected only in the duodenal tissues from the 2 patients with OMM. The sequences of these amplicons were identical to the corresponding region of the previously published Tropheryma whippelii 16S rDNA sequence. PCR-based assays of intestinal or brain tissue may be of value for confirming, and possibly refuting, a clinical diagnosis of CNS Whipple's disease in a patient with any combination of dementia, supranuclear gaze palsy, hypothalamic manifestations, myoclonus, seizures, ataxia, or OMM, especially when tissue histology is unrevealing.

Actinobacteria↗
PubMed1997

Idiopathic torsion dystonia linked to chromosome 8 in two Mennonite families.

The DYT1 locus on chromosome 9q34 is responsible for most childhood limb-onset idiopathic torsion dystonia (ITD). Linkage to DYT1 has been excluded in families with adult-onset, and predominantly cranial-cervical, ITD. We mapped a locus (DYT6) associated with prominent cranial-cervical ITD in two large Mennonite families to chromosome 8. An identical haplotype spanning 40-cM segregates with ITD in these families, suggesting a shared mutation from the recent past.

Adolescent↗
PubMed1997

The characterization and outcome of stereotypical movements in nonautistic children.

Stereotypies are patterned, repetitive, purposeless movements that are performed the same way each time. They are commonly seen in individuals with autism, schizophrenia, or mental retardation, and also occur as a feature of tardive dyskinesia and as movements in those with akathisia. We studied 10 children who had stereotypies but were not autistic or mentally retarded. Although most had an uneventful delivery, seven had mild to moderately delayed developmental milestones. Five had hyperactive behavior or attention-deficit problems. All appeared to be of normal intelligence. The median age of onset of stereotypies was 12 months. The stereotypies including arm flapping, arm and hand posturing, finger wiggling, body rocking, leg shaking, facial grimacing, involuntary noises, neck extension, and eye blinking. Of the 10 children, only two stopped having stereotypies eventually without medications.

Attention Deficit Disorder with Hyperactivity↗
PubMed1997

Freezing phenomenon in patients with parkinsonian syndromes.

Freezing is a common symptom in parkinsonian syndromes, but its association with different causes of parkinsonism as well as with other symptoms has never been investigated. We conducted a database survey of the occurrence of freezing in parkinsonism. Of 347 patients with a clinical diagnosis of parkinsonism other than idiopathic Parkinson's disease and with specific data regarding freezing, 158 patients had freezing (46%). Freezing was significantly associated with progression of the disease as rated on the Hoehn & Yahr scale [odds ratio (OR), 1.69; p < 0.004]. Gender was not a risk factor for the development of freezing. Patients with drug-induced parkinsonism were at a very low risk for developing freezing (p < 0.00001; OR, 0.1). Freezing was found in a high frequency in patients with vascular parkinsonism (57%), normal-pressure hydrocephalus (56%), and generally in the group of patients who had parkinsonism resulting from neurodegenerative diseases (progressive supranuclear palsy, multiple system atrophy, and corticobasal ganglionic degeneration; 45%). Freezing was significantly associated with the presence of dementia, incontinence, and tachyphemia (OR, 2.01, 1.7, and 5.09, respectively).

Dementia↗
PubMed1997

Agreement among movement disorder specialists on the clinical diagnosis of essential tremor.

Even though essential tremor (ET) is the most prevalent movement disorder, there has been little agreement in the neurologic literature regarding diagnostic criteria for ET. The authors attempted to determine the extent and source of agreement and disagreement among neurologists regarding diagnostic criteria for clinically definite ET. The authors designed and mailed a semistructured questionnaire to 160 neurologists who specialize in movement disorders in 24 countries. The questionnaire included three sections: a list of inclusion criteria, a list of exclusion criteria, and a list of potential clinical scenarios (for example, isolated site-specific tremor and primary orthostatic tremor). The questionnaire was completed by 98 (61%) of 160 targeted neurologists. There was greater consensus regarding features considered unnecessary inclusion criteria for clinically definite ET (extent of disability, disease duration, and positive family history) than for those considered necessary inclusion criteria (postural versus action tremor). With regard to exclusion criteria, there was some consensus in terms of the presence of Parkinson's disease, dystonia, history of hyperthyroidism or concurrent use of tremor-inducing medications, and cerebellar signs. The majority of neurologists would diagnose ET in the setting of isolated head or voice tremor. There are areas of both consensus and divergence among neurologists with regard to diagnostic criteria for ET. The choice of diagnostic criteria may vary depending on the intended use of the criteria (that is, clinical versus genetic studies). Hopefully, this study will foster further discussion to achieve a more general consensus.

Humans↗
PubMed1997

The early-onset torsion dystonia gene (DYT1) encodes an ATP-binding protein.

Early-onset torsion dystonia is a movement disorder, characterized by twisting muscle contractures, that begins in childhood. Symptoms are believed to result from altered neuronal communication in the basal ganglia. This study identifies the DYT1 gene on human chromosome 9q34 as being responsible for this dominant disease. Almost all cases of early-onset dystonia have a unique 3-bp deletion that appears to have arisen idependently in different ethnic populations. This deletion results in loss of one of a pair of glutamic-acid residues in a conserved region of a novel ATP-binding protein, termed torsinA. This protein has homologues in nematode, rat, mouse and humans, with some resemblance to the family of heat-shock proteins and Clp proteases.

ATP-Binding Cassette Transporters↗