engleski

HUNTINGTON DISEASE IN CROATIA: A TWENTY FIVE YEARS OF EXPERIENCE

Background: Knowledge of the natural history of Huntington&#8217; s disease (HD) in Western European populations is well known. Clinical presentation of HD, genetic characteristics and disease evolution in patients coming from Croatia, constituted from Slavic population is still unknown, since most data are in the form of case reports. Objective: To report our experience over 25 years with patients with HD in Croatia. Patients and Methods: The clinical records of sixty-five HD patients were reviewed. Data were collected for period of 25 years (14 years prior and 11 years after the introduction of genetic testing for HD). Results: The mean age at disease onset was 39.5 (10.7) years. Adult onset HD was the most common while juvenile HD was observed in only 6.3 % of patients. Chorea was the most common presenting symptoms (63%), followed by psychiatric disturbances (30.7%). Juvenile patients (6.3%) presented as rigid type, vocal tics and myoclonic epilepsy (only one patient). The mean number of CAG repeats was 47. 8 (range from 40 to 66 repeats). A significant inverse correlation was observed between repeat size and age at onset. The mutation length was longer in paternally (mean= 47.7 CAGs units) than in maternally (mean= 42.7 CAGs units) transmitted HD patients (p<0.05). There was no association between the CAG repeat length and a particular clinical presentation at onset. Conclusion: Regarding the age at onset, genetic characteristic and clinical features during the course of the disease, our patients did not differ from Western European population.

Huntington's disease; CAG repeats; clinical features

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