hereditary sensory and autonomic neuropathies การใช้

• Familial dysautonomia is also called hereditary sensory and autonomic neuropathy, type III.
• HSAN I must be distinguished from hereditary motor and sensory neuropathy ( HMSN ) and other types of hereditary sensory and autonomic neuropathies ( HSAN II-V ).
• Other types of somatosensory loss include hereditary sensory and autonomic neuropathy, which consists of ineffective afferent neurons with fully functioning efferent neurons; essentially, motor movement without somatosensation.
• A man in Wisconsin pointed the Italians to Dr . Felicia Axelrod, an expert in hereditary sensory and autonomic neuropathies, or HSAN, at New York University Medical Center.
• The main group of sensory neuron diseases are hereditary sensory and autonomic neuropathies ( HSAN ) such as HSAN I, HSAN II, and Charcot-Marie-Tooth Type 2B ( CMT2B ).
• Hereditary sensory and autonomic neuropathy type II ( HSAN2 ) is a condition that primarily affects the sensory nerve cells ( sensory neurons ), which transmit information about sensations such as pain, temperature, and touch.
• Hereditary sensory and autonomic neuropathy type V ( HSAN5 ) is a condition that primarily affects the sensory nerve cells ( sensory neurons ), which transmit information about sensations such as pain, temperature, and touch.
• In 1975, Dyck and Otha proposed a descriptive classification of the diseases and introduced the term hereditary sensory neuropathy ( HSN ) which later was changed to hereditary sensory and autonomic neuropathy ( HSAN ) given the substantial autonomic involvement in the diseases.
• HSAN1 ( hereditary sensory and autonomic neuropathy type 1 ) is a genetic disorder caused by mutations in either one of SPTLC1 or SPTLC2, genes encoding the two heterodimeric subunits of the eukaryotic serine C-palmitoyltransferase enzyme . These mutations have been shown to alter active site specificity, specifically by enhancing the ability of the enzyme to condense L-alanine with the palmitoyl-CoA substrate.