Jatin B Desai

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Clinical revaluation and genetic analysis of six Indian pedigrees, segregating autosomal dominant cerebellar ataxia, slow saccades and peripheral neuropathy, has been undertaken, and expansion at the spinocerebellar ataxia 2 (SCA2) locus was confirmed in 14 affected family members. These families became available from 31 phenotypically similar families seen(More)
Fasciculations are observed in patients with neurogenic disorders and in healthy individuals. Depending on the associated clinical symptoms and signs, they may signify the presence of a variety of disorders of the lower motor neuron. Divergent and occasionally conflicting opinions prevail regarding the aetiology, pathogenesis, clinical significance,(More)
Primary lateral sclerosis (PLS) is a rare degenerative disorder of the upper motor neuron. Its nosological status and relationship to other motor neuron syndromes, especially amyotrophic lateral sclerosis (ALS), is uncertain. Diagnostic criteria have been proposed. We discuss the history of this rare clinical disorder, its relationship to the motor neuron(More)
Three patients with sporadic amyotrophic lateral sclerosis (ALS) presented with a history of backward falls. Impaired postural reflexes and retropulsion accompanied clinical features of ALS. Hypokinesia, decreased arm swing, and a positive glabellar tap were noted in two of these three patients. Cognitive impairment, tremor, axial rigidity, sphincter(More)
The classification and nomenclature of motor neuron disease, whether sporadic or familial, is confused. For example, both the sporadic and familial motor neuron diseases are phenotypically heterogeneous and, in familial ALS, phenotypic heterogeneity correlates only weakly with different underlying mutations in the SOD1 gene. We propose a classification(More)
AIMS We sought to define the mechanisms and correlates of leptin's vascular actions in humans with coronary artery disease. METHODS AND RESULTS In 131 patients (age 65.7+/-0.7 years mean+/-SEM), ex vivo vascular reactivity to leptin (10(-13)-10(-7) M) was assessed in saphenous vein (SV) rings. Leptin led to SV relaxation (maximal relaxation 24.5+/-1.6%).(More)
Spinal anesthesia recently has gained popularity for elective cesarean section. Our anesthesia service changed from epidural to spinal anesthesia for elective cesarean section in 1991. To evaluate the significance of this change in terms of time management, costs, charges, and complication rates, we retrospectively reviewed the charts of patients who had(More)
Riluzole is the only drug to have been approved for the treatment of amyotrophic lateral sclerosis (ALS/MND). Its mechanism of action is complex and includes actions on NMDA and kainate receptors and modulation of voltage gated Na channels. In ALS, its effects on measurable parameters of the motor units utilising current neurophysiological techniques are(More)
Primary lateral sclerosis is an uncommon, distinct clinical entity. We report a patient with primary lateral sclerosis in whom investigations revealed an IgM monoclonal gammopathy, raised CSF protein and persistently high ESR. A number of reports suggest that lymphoproliferative disorders, paraproteinemia and clinico-pathological syndromes mimicking motor(More)
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