Session Information
Date: Wednesday, June 22, 2016
Session Title: Huntington's disease
Session Time: 12:00pm-1:30pm
Location: Exhibit Hall located in Hall B, Level 2
Objective: To report our experience over 30 years with patients with Huntington’s disease disease (HD) in Croatia and to assess the presence of oxidative stress in HD patients and its occurrence relative to the occurrence of clinical symptoms of the disease.
Background: Clinical presentation, genetic characteristics and disease evolution of patients with HD coming from Croatia, constituted from Slavic population, is still unknown, since most data are in the form of case reports.
Methods: The clinical records of ninety-five HD patients were reviewed. Data were collected for period of 30 years (14 years prior and 16 years after the introduction of genetic testing for HD). Oxidative stress markers (plasma lipid peroxidation, glutathione levels) were determined in blood of HD patients and asymptomatic gene carriers.
Results: The mean age at disease onset was 36.5 (11.7) years. Adult onset HD was the most common while juvenile HD was observed in only 7 % of patients. Chorea was the most common presenting symptoms (69%), followed by psychiatric disturbances as depression and psychosis (31%). Twenty percent of choreatic patients were characterized as spinal pathology (discus) at the beginning of the disease. Juvenile patients presented as rigid type, vocal tics and myoclonic epilepsy (only one patient). The mean number of CAG repeats was 45. 9 (range from 33 to 69 repeats). The mutation length was longer in paternally (mean= 47.9 CAGs units) than in maternally (mean= 41.3 CAGs units) transmitted HD 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. There was no significant correlation between the number of CAG repeats or oxidative stress markers and symptom severity in HD patients.
Conclusions: 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.
XXII World Congress of Neurology WCN 2015, Santiago, Chile, 31.10.-5.11.2015.
To cite this abstract in AMA style:
M. Relja, I. Jurjevic, K. Blazina, V. Miletic, N. Klepac. Clinical presentation and genetic characteristics of Huntingtons disease in Croatia: Thirty years of experience [abstract]. Mov Disord. 2016; 31 (suppl 2). https://www.mdsabstracts.org/abstract/clinical-presentation-and-genetic-characteristics-of-huntingtons-disease-in-croatia-thirty-years-of-experience/. Accessed May 22, 2025.« Back to 2016 International Congress
MDS Abstracts - https://www.mdsabstracts.org/abstract/clinical-presentation-and-genetic-characteristics-of-huntingtons-disease-in-croatia-thirty-years-of-experience/