Nerve conductions in patients with normal renal function
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چکیده
The neurological manifestations of Fabry disease include both peripheral and central nervous system involvement caused by a deficiency of a-galactosidase A and accumulation of a–D-galactosyl moieties, particularly globotriosylceramide accumulation (Gb3). These are found in Schwann cells and dorsal root ganglia together with deposits in central nervous system neurons. Involvement of the peripheral nervous system affect mainly small Ad and C fibers and are likely causally related to the altered autonomic function and neuropathic pain found in this disorder. Other related abnormalities to be discussed are hypohidrosis and other abnormalities attributed to autonomic nervous system dysfunction. The function of the peripheral nervous system is somewhat improved by ERT, with reduction in neuropathic pain and an improvement of the detection threshold for cold and warm sensation in the hand and foot. Improvement in sweating and heat tolerance is also noted following ERT. Despite those positive results, ERT does not normalize the function of the peripheral nervous system.
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