نتایج جستجو برای: hereditary sensory and autonomic neuropathies
تعداد نتایج: 16848591 فیلتر نتایج به سال:
Hereditary neuropathies form a heterogeneous group of disorders for which over 40 causal genes have been identified to date. Recently, dominant mutations in the transient receptor potential vanilloid 4 gene were found to be associated with three distinct neuromuscular phenotypes: hereditary motor and sensory neuropathy 2C, scapuloperoneal spinal muscular atrophy and congenital distal spinal mus...
Soon after the description of Charcot-Marie-Tooth disease (CMT) in 1886, it became apparent that this syndrome is clinically and genetically heterogeneous. Neuropathological and electrophysiological studies have further dissected this syndrome into distinct categories that are now classified in a complex nosology of the inherited peripheral neuropathies. The recent advent of molecular genetics ...
Hypertrophic neuropathy in a family of inbred Tibetan Mastiff dogs is shown to be due to an autosomal recessive gene. The disease has an onset at 7 to 12 weeks of age and results in varying degrees of paresis. HEREDITARY hypertrophic neuropathies have been described in humans and in mice. In humans these include the autosomal dominant Charcot-Marie-Tooth disease with onset in the first or secon...
16 Objective: This study develops normalized values for sensation in the feet of healthy subjects. Knowledge relative to normal sensory perception and subsequent loss will enable clinicians to differentiate between normal and abnormal findings, especially in patients with or at risk for diabetes. Methods: Subjects were over age 18 and without medical complications that might compromise sensory ...
Two HIV infected patients presented with peripheral neuropathy, in one patient this was originally ascribed to HIV associated mononeuritis multiplex and in the other to stavudine. Investigations confirmed these diagnoses and in both cases genetic analysis identified a second hereditary aetiology: in the first patient hereditary neuropathy with liability to pressure palsies and in the second her...
A 5 year old boy developed severe weakness after receiving vincristine for treatment of acute lymphoblastic leukaemia. Although weakness improved after the discontinuation of vincristine, other symptoms suggestive of a neuropathy persisted. Neurophysiological and genetic analysis at age 8 years indicated that vincristine had induced symptoms of a hereditary sensory motor neuropathy type 1A, whi...
Sensory systems do not work in isolation; instead, they show interactions that are specifically uncovered during sensory loss. To identify and characterize these interactions, we investigated whether visual deprivation leads to functional enhancement in primary auditory cortex (A1). We compared sound-evoked responses of A1 neurons in visually deprived animals to those from normally reared anima...
Pressure ulcers are recognized as a major health issue in individuals with spinal cord injuries and new approaches to prevent this pathology are necessary. An innovative health strategy is being developed through the use of computer and sensory substitution via the tongue in order to compensate for the sensory loss in the buttock area for individuals with paraplegia. This sensory compensation w...
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