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<p>Huntington's disease (HD) is a chronic neurodegenerative disorder, characterized by the following triad of clinical hallmarks: autosomal dominant inheritance, choreoathetosis, and dementia. In 1993 the genetic mutation responsible for HD was identified and mapped on the chromosome 4p16.3. The mutation is a characteristic expansion of a CAG nucleotide triplet. In this paper we present a 36-years-old male patient with HD. Additionally he also had retinitis pigmentosa. His pedigree wasdoi:10.3329/fmcj.v12i1.33492 fatcat:w2nsx5wk45h75llhopwiecwuke