Clinical and Epidemiological Aspects of Huntington Disease in the Republic of Tatarstan

Abstract

his study aimed to evaluate the epidemiological features ofHuntington disease (HD), based on data from the Centre for Extrapyramidal Pathology and Botulinum Toxin Therapy of theRepublic ofTatarstan. Materials and methods. We examined 44 patients with HD (mean age 47.3 12.5 years). The study design included determining and comparing clinical data, genealogical and epidemiological data, and laboratory parameters. Results. The highest prevalence of HD was found in the north-western and north-eastern parts of theRepublic ofTatarstan being 1.1 per 100,000 people, regardless of nationality. The phenomenon of anticipation in HD inheritance was observed, considering the instability and increasing expansion in subsequent generations along the paternal line. Psychiatric manifestations (apathy, irritability, anxiety, depression) were present in 61.4% of cases at disease onset. One male patient was presumably diagnosed with the Westphal variant. Manifest carriers of a CAG-expansion in the range of 3639 repeats in the mutant gene were found in 15.9% of cases and were predominantly represented by females (85.7%).

Keywords

• huntington disease
• chorea
• prevalence
• cag repeats