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Late-onset hereditary sensory neuropathy type I due to SPTLC1 mutation: autopsy findings

Andrea J Lindahl1, Sam D Lhatoo, Malcolm J Campbell

  • 1Department of Neurology, Institute of Clinical Neurosciences, Frenchay Hospital, Bristol BS16 1LE, UK.

Clinical Neurology and Neurosurgery
|November 8, 2005
PubMed

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Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...