Background Motor disturbances in Huntington’s disease (HD) can be subdivided into hyperkinetic (choreatic) or hypokinetic-rigid form. Patients with juvenile HD (JHD) also have bradykinesia and dystonia at an early stage of the illness. In different populations the clinical characteristics of patients with HD are similar, but may be a difference in the incidence of clinical forms.
Aim Our aim was to analyse motor disturbances in patients with HD from Republic of Bashkortostan of various ethnic origins.
Materials and methods The population of Bashkortostan is 4.07 million people. The population of Bashkirs is 1.2 million (29.5%) according to the 2010 census. Two other big ethnic groups are Russians (36.0%) and Tatars (25.4%). The prevalence of HD in Bashkortostan is 3.6 per 100.000 that compared to other populations.
Results The majority of patients with HD had the hyperkinetic form of the disease. All groups (patients with HD from Bashkir, Russian, Tatar ethnic groups) showed no differences in the motor age of onset (p > 0.02). Cases of JHD were observed in two families: Russian and Tatar ethnicities. Cases of HD with hypokinetic-rigid form were often observed in Bashkir families with HD (motor age of onset ranged from 27 to 32 years of life, number of CAG-repeats in HTT-gene varied from 43–47).
Conclusion Analysis of the clinical features of HD and DNA-diagnostics will help to early diagnosis and effective genetic counselling in the families with HD.
- Huntington’s disease
- clinical forms
- motor disturbances