Diseases caused by trinucleotide repeat mutations – Pathology MCQ

All of the following diseases are caused by trinucleotide repeat mutations affecting non-coding regions except?
A. Fragile X syndrome
B. Myotonic dystrophy
C. Spinocerebellar ataxia
D. Friedreich ataxia

Correct answer : C. Spinocerebellar ataxia

  • Fragile X syndrome, Myotonic dystrophy and Friedreich ataxia are examples of trinucleotide repeat disorders with expansions affecting non-coding regions.
  • Spinocerebellar ataxia, Huntington’s disease and Spinobulbar muscular atrophy are trinucleotide repeat disorders with expansions affecting coding regions.

Ref: Robbins & Cotran, Pathologic basis of disease, South Asia edition, Vol 1, p168

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