Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2
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چکیده
منابع مشابه
Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2.
OBJECTIVE To describe the clinical and neurophysiologic phenotype of a family with hereditary sensory and autonomic neuropathy type 1 (HSANI) due to a novel mutation in SPTLC2 and to characterize the biochemical properties of this mutation. METHODS We screened 107 patients with HSAN who were negative for other genetic causes for mutations in SPTLC2. The biochemical properties of a new mutatio...
متن کاملHereditary sensory and autonomic neuropathy: A case report
A 24-year old female patient with the history of pressure ulcers in distal extremities resulted in severe deformity will be reported. Her disease started when she was 9 years old and a similar history was found in her brother. In physical examination, pain and temperature sensations were impaired in distal extremities. Nerve conduction velocity showed impaired sensory and normal motor responses...
متن کاملMutations in the SPTLC2 subunit of serine palmitoyltransferase cause hereditary sensory and autonomic neuropathy type I.
Hereditary sensory and autonomic neuropathy type I (HSAN-I) is an axonal peripheral neuropathy associated with progressive distal sensory loss and severe ulcerations. Mutations in the first subunit of the enzyme serine palmitoyltransferase (SPT) have been associated with HSAN-I. The SPT enzyme catalyzes the first and rate-limiting step in the de novo sphingolipid synthesis pathway. However, dif...
متن کاملHereditary sensory and autonomic neuropathy type I.
Hereditary sensory and autonomic neuropathy (HSAN) type 1 is a rare hereditary neurological disorder. Two brothers aged 17 and 14 years had HSAN type 1 as both had big ulcers on feet, mutilation, dissociated anaesthesia, absent ankle jerks and normal hands. Probably these are first cases of HSAN type 1 in Indian literature.
متن کاملHereditary sensory and autonomic neuropathy type IV.
Several types of hereditary sensory and autonomic neuropathies (HSAN) are reported in literatures. We describe here a case of type IV HSAN, the second commonest variety of HSAN and attempt to present a short review of literature. Families of these children need support, proper guidance and counseling for taking better care of the diseased. The goal should be to help them achieve independent fun...
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ژورنال
عنوان ژورنال: Neurology
سال: 2013
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0b013e318295d789