Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1
نویسندگان
چکیده
منابع مشابه
Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C
Hereditary sensory neuropathy type 1 (HSAN1) may be the first genetic neuropathy amenable to a specific mechanism-based treatment, as L-serine supplementation can be used to lower the neurotoxic levels of 1-deoxysphingolipids (1-deoxySL) that cause the neurodegeneration. The treatment is so far untested in HSAN1C caused by variants in the serine palmitoyl transferase subunit 2 (SPTLC2) gene. Th...
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 کاملOral L-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1.
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) causes sensory loss that predominantly affects the lower limbs, often preceded by hyperpathia and spontaneous shooting or lancinating pain. It is caused by several missense mutations in the genes encoding 2 of the 3 subunits of the enzyme serine palmitoyltransferase (SPT). The mutant forms of the enzyme show a shift from their canonical...
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...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neurology
سال: 2019
ISSN: 0028-3878,1526-632X
DOI: 10.1212/wnl.0000000000006811