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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
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↗
PubMed1997

Fine localization of the torsion dystonia gene (DYT1) on human chromosome 9q34: YAC map and linkage disequilibrium.

The DYT1 gene, which maps to chromosome 9q34, appears to be responsible for most cases of early-onset torsion dystonia in both Ashkenazic Jewish (AJ) and non-Jewish families. This disease is inherited in an autosomal dominant mode with reduced penetrance (30%-40%). The abnormal involuntary movements associated with this disease are believed to be caused by unbalanced neural transmission in the basal ganglia. Previous linkage disequilibrium studies in the AJ population placed the DYT1 gene in a 2-cM region between the loci D9S62a and ASS. A YAC contig has now been created spanning 600 kb of this region including D9S62a. The location of the DYT1 gene has been refined within this contig using several new polymorphic loci to expand the linkage disequilibrium analysis of the AJ founder mutation. The most likely location of the DYT1 gene is within a 150 kb region between the loci D9S2161 and D9S63.

Adult↗
PubMed1997

The Washington Heights-Inwood Genetic Study of Essential Tremor: methodologic issues in essential-tremor research.

Essential tremor (ET) is the most prevalent movement disorder. It is unknown to what extent ET clusters within families, and the role of genetic susceptibility in etiology of ET has not been adequately investigated at the population level. The problem is largely methodological, with few well-designed studies. The Washington Height-Inwood Genetic Study of ET, begun in 1955, is designed to investigate the genetics of ET using a methodology that has not been applied to ET research to date. Part of the design includes a new set of clinical and electrophysiological diagnostic criteria for ET; the present paper describes this novel study design.

Case-Control Studies↗
PubMed1997

Comparison of extrapyramidal features in 31 pathologically confirmed cases of diffuse Lewy body disease and 34 pathologically confirmed cases of Parkinson's disease.

OBJECTIVE: To compare the extrapyramidal features of pathologically confirmed cases of diffuse Lewy body disease (DLBD) and Parkinson's disease (PD). BACKGROUND: The proportion of pathologically confirmed cases of DLBD diagnosed clinically as PD is as high as 88%. Few papers focus specifically on the extrapyramidal features of DLBD. Further characterization of these features might facilitate antemortem diagnosis, in particular, distinguishing DLBD from PD. METHODS: Review of prospective and retrospective clinical data on a large series of pathologically diagnosed cases of DLBD (N = 31) and PD (N = 34) seen between 1984 and 1995 at Columbia-Presbyterian Medical Center or the University of Rochester. RESULTS: Those with DLBD had an older mean age of onset (67.9 years) than PD (62.0 years) (z = 6.5, p < 0.0001). Rest tremor was more common in PD (85.0%) than DLBD (55.0%) (chi 2 = 4.3, p = 0.038). Myoclonus was more common in DLBD (18.5%) than PD (0%) (Fisher's p = 0.021). There were no differences in rigidity, bradykinesia, dystonia, or gaze palsies. Clinical response to levodopa may have been more common in PD (100%) than DLBD (70.0%) (Fisher's p = 0.059). The occurrence of any one of four clinical features (myoclonus, absence of rest tremor, no response to levodopa, or no perceived need to treat with levodopa) was 10 times more likely in DLBD than PD (odds ratio = 10.29, 95% confidence interval = 2.58-41.11). CONCLUSIONS: We demonstrated that several clinical features distinguish DLBD from PD. These features, in combination with reported differences in cognitive and psychiatric manifestations, may be used for diagnostic purposes in distinguishing DLBD from PD in prospective longitudinal cohort studies of DLBD.

Aged↗
PubMed1997

Secondary dystonia and the DYTI gene.

Early-onset (< 28 years) primary dystonia in most Ashkenazi Jews is due to a single founder mutation in the DYT1 gene on chromosome 9q34, as determined by very strong linkage disequilibrium with a haplotype of 9q34 alleles at surrounding marker loci. The role of this mutation in individuals with secondary causes for dystonia has never been tested, although environmental insults, such as neuroleptic exposure or perinatal asphyxia, are proposed to precipitate dystonia in genetically predisposed individuals. We assessed 9q34 haplotypes in 40 Ashkenazi patients with secondary dystonia; 25 had early onset of symptoms, including 15 with exposure to neuroleptic medication or perinatal asphyxia. Of the 25 patients with early onset, 9 were considered phenocopies of DYT1 having normal examinations except for dystonia, normal radiographic and other laboratory studies, and onset in a limb or the neck. Only one individual whose dystonia developed in the setting of a measles infection carried the associated haplotype. Our findings indicate that clinical diagnostic criteria that include historical information to detect tardive dystonia and perinatal asphyxia discriminate primary dystonia due to the DYT1 founder mutation. We found no evidence that the DYT1 founder mutation contributes to secondary dystonia.

Adolescent↗
PubMed1996

Delayed-onset cerebellar syndrome.

BACKGROUND: Delayed-onset involuntary movements, including dystonia and myoclonus, have been reported after stroke or head trauma. Moreover, there have been reports of delayed-onset isolated intention tremor and, in several of these cases, gait ataxia. OBJECTIVE: To further define the clinical features of a delayed-onset cerebellar syndrome. DESIGN: Subjects with cerebellar tremor and either head trauma or stroke were identified using a computerized database, providing detailed demographic and clinical information of 4002 patients with involuntary movements other than Parkinson's disease seen at our center between 1983 and 1995. Medical records and videotaped neurological examinations were retrospectively reviewed. SETTING: The Center for Parkinson's Disease and Other Movement Disorders at Columbia-Presbyterian Medical Center, New York, NY. PATIENTS: Five patients with delayed-onset cerebellar syndromes. RESULTS: Five patients with stroke or head trauma developed a cerebellar syndrome 3 weeks to 2 years after the initial insult. The syndrome, characterized by intention tremor, ataxic dysarthria, nystagmus, dysmetria, dysdiadochokinesis, and gait ataxia, was progressive in at least one patient. In four patients, lesions were present on neuroimaging in the thalamus or brain stem (especially in the midbrain). CONCLUSIONS: A delayed-onset cerebellar syndrome may follow head trauma or stroke. The syndrome is sometimes progressive and often disabling. The delayed onset implies that the syndrome is not caused by the initial lesion itself but may be caused by development of post-synaptic supersensitivity or secondary reorganization of involved pathways.

Adolescent↗
PubMed1996

Tourette syndrome.

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Evaluation Studies as Topic↗