نتایج جستجو برای: hereditary sensory autonomic neuropathy
تعداد نتایج: 236104 فیلتر نتایج به سال:
Acute autonomic and sensory neuropathy is a rare disorder that has been only anecdotally reported. We characterized the clinical, electrophysiological, pathological and prognostic features of 21 patients with acute autonomic and sensory neuropathy. An antecedent event, mostly an upper respiratory tract or gastrointestinal tract infection, was reported in two-thirds of patients. Profound autonom...
Congenital insensitivity to pain with anhidrosis (CIPA) syndrome is a rare autosomal recessive disease which is also known as hereditary sensory and autonomic neuropathy type 4 (1). The prominent characteristics of the disease include fever due to anhidrosis, absence of sense of pain, painless ulcers in the structures inside the mouth and extremities, self-harm behavior, mild to severe mental r...
Autosomal recessive KIF1A missense mutations cause hereditary spastic paraplegia (HSP) type SPG30, while recessive truncations lead to sensory and autonomic neuropathy (HSN2C) and many de novo missense mutations are associated with cognitive impairment. Here, we describe family members across three generations with pure HSP. A heterozygous p.Ser69Leu KIF1A mutation segregates with those afflict...
We have studied a large Swedish family with a mutation in the nerve growth factor beta (NGFB) gene causing insensitivity to deep pain without anhidrosis (hereditary sensory and autonomic neuropathy, type V; HSAN V). Painfree joint destruction and fractures were common. Peripheral nerve conduction was normal, but temperature thresholds were increased. Sural nerve biopsies showed a moderate loss ...
We herein describe a Japanese family with distal hereditary motor neuropathy carrying a K141Q mutation of small heat shock protein HSPB1. Two patients among them had late onset disease (older than 50 years). The muscles of the distal legs were weak and atrophic. Sensory and autonomic dysfunction were not seen. Even eight years after onset, one patient could still walk without support. A nerve c...
UNLABELLED In 2002, Spring et al reported a family with an autosomal dominant form of hereditary sensory neuropathy; patients also presented adult onset of gastroesophageal reflux and cough. Since then, no further families have been described. OBJECTIVE To study a new Portuguese family with these characteristics. METHOD To describe the clinical and neurophysiologic characteristics of one fa...
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