Bacground: Clinical presentation, genetic characteristics and disease evolution of patients with Huntington's chorea (HC) from Croatia, constituted from Slavic population, is still unknown, since most data are in the form of case reports.
Objetive: To report our experience over 30 years with patients with HC in Croatia
Patients and methods: The clinical records of ninety-five patients with HC were reviewed. Data were collected for periods of 30 years (14 years prior and 16 after the introduction of genetic testing for HC).
Results: The mean age at the disease onset was 36.5 (11.7) years. Adult onset HC was the most common while juvenile HC was observed in only 7% of patients. Chorea was the most common presenting symptom (69%) and 20% of these patients were characterized as spinal pathology at the beginning of the disease. Psychiatric disturbances as presenting symptoms (depression, psychosis) were present in 31% of patients. Juvenile patients presented as rigid type, vocal tics and myoclonus. The mean number of CAG repeats was 45.9 (range: 33–69 repeats). The mutation length was longer in paternally (mean = 47.9 CAG units) than in maternally (mean = 41.3 CAG units) transmitted HC patients (p < 0.05). A significant inverse correlation was observed between repeat size and age at onset. There was no association between the CAG repeat length and a particular clinical presentation at onset.
Conclusion: Regarding the age at onset, genetic characteristics and clinical features during the course of the disease, patients in Croatia did not differ from the Western European population.
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© 2015 Published by Elsevier Inc.
