نتایج جستجو برای: hereditary sensory and autonomic neuropathies
تعداد نتایج: 16848591 فیلتر نتایج به سال:
L'insensibilité congénitale à la douleur (ICD), est une affection rare de transmission autosomique récessive, caractérisée par une absence congénitale de la perception de la douleur. Elle a été décrite pour la première fois en 1932 par DEARBORN, elle constitue le type V des neuropathies héréditaires sensitives et autonomiques (HSAN :hereditary sensory and autonomic neuropathies). Cette patholog...
Induced pluripotent stem (iPS) cells have considerable promise as a novel tool for modelling human disease and for drug discovery. While the generation of disease-specific iPS cells has become routine, realizing the potential of iPS cells in disease modelling poses challenges at multiple fronts. Such challenges include selecting a suitable disease target, directing the fate of iPS cells into sy...
Hereditary sensory autonomic neuropathy Type IV is an autosomal recessive disorder due to lack of maturation of small myelinated and unmyelinated fibers of peripheral nerves, which convey sensation of pain and temperature, therefore, resulting in self mutilation. There is anhidrosis due to lack of innervation of normal sweat glands resulting in recurrent episodes of hyperpyrexia. The clinical p...
how to cite this article: karimi m, fallah r. a case report of congenital insensitivity to pain and anhidrosis (cipa). iran j child neurol 2012; 6(3): 45-48. congenital insensitivity to pain and anhidrosis (cipa) or hereditary sensoryautonomic neuropathies type iv (hsan type iv) is an extremely rare autosomalrecessive disorder initially described by swanson in 1963.we report a 2.5-year-old bo...
according to the well-known classification of dyck, inherited peripheral neuropathies can be categorized as hereditary motor and sensory neuropathies (hmsn) or charcot – marie – tooth (cmt) disease, hereditary motor neuropathies (hmn), and hereditary sensory neuropathies (hsn). cmt is a clinically and genetically heterogeneous group of motor and sensory neuropathies, and is the most common inhe...
Early onset hereditary motor and sensory neuropathies are rare disorders encompassing congenital hypomyelinating neuropathy with disease onset in the direct post-natal period and Dejerine-Sottas neuropathy starting in infancy. The clinical spectrum, however, reaches beyond the boundaries of these two historically defined disease entities. De novo dominant mutations in PMP22, MPZ and EGR2 are kn...
A spontaneous autosomal recessive mutation was identified in the Sprague-Dawley rat strain with an early onset sensory neuropathy. The main clinical features of the mutation (mutilated foot, mf ), detectable shortly after birth, include ataxia, insensitivity to pain and foot ulceration. The pathological features include a severe reduction in the number of sensory ganglia and fibres. This mutant...
Noise can enhance the detection and transmission of weak signals in certain nonlinear systems, via a mechanism known as stochastic resonance. Here we show that input noise can be used to improve motor control in humans. Specifically, we show that the postural sway of both young and elderly individuals during quiet standing can be significantly reduced by applying subsensory mechanical noise to ...
The aim in this review article is to document research findings that have shown paradoxical effects of nervous system changes, whereby direct or indirect neural damage may result in facilitation of behavioural functions. Such findings have often been ignored or undervalued in the brain-behaviour research literature. A further aim is to consider possible mechanisms and theoretical insights relat...
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