Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

@article{Dawkins2001MutationsIS,
  title={Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I},
  author={Jennifer L. Dawkins and Dennis J. Hulme and Sonal B. Brahmbhatt and Michaela Auer-Grumbach and Garth A. Nicholson},
  journal={Nature Genetics},
  year={2001},
  volume={27},
  pages={309-312}
}
Hereditary sensory neuropathy type I (HSN1) is the most common hereditary disorder of peripheral sensory neurons. HSN1 is an autosomal dominant progressive degeneration of dorsal root ganglia and motor neurons with onset in the second or third decades. Initial symptoms are sensory loss in the feet followed by distal muscle wasting and weakness. Loss of pain sensation leads to chronic skin ulcers and distal amputations. The HSN1 locus has been mapped to chromosome 9q22.1–22.3 (refs. 3,4). Here… CONTINUE READING

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