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Niemann-Pick disease-type C: a case report

K E Pradeep1, N K Supriya

  • 1Calicut Medical College, Calicut, Kerala.

Indian Journal of Pathology & Microbiology
|May 25, 2002
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,...