Although clinical manifestations of their disease varies widely, patients with most common types of spinocerebellar ataxias (SCA) experience a similar decline in quality of life and daily activities, according to results from the long-term EUROSCA study presented at IARC 2017 on Thursday.
The results were given by Heike Jacobi with the German Center for Neurodegenerative Diseases (DZNE), Bonn, and Department of Neurology, Heidelberg University Hospital in Heidelberg. Her presentation was titled “Long-term quality of life, depression and activities of daily living in the most common spinocerebellar ataxias (SCA1, SCA2, SCA3, SCA6).”
IARC 2017, the International Ataxia Research Conference, is running in Pisa, Italy, through Sept. 30.
SCAs are a clinically heterogeneous group of inherited progressive ataxia disorders. Genetic testing has allowed researchers to identify specific types of SCAs, and these are numbered according to the order of discovery of the defective gene that underlies the disease. This number continues to grow.
The most common are SCA1, SCA2, SCA3, and SCA6. Efforts have been devoted to characterize the clinical manifestations and disease progression of each SCA type, but data on patients health-related living conditions are scarce.
Researchers analyzed data from the ongoing EUROSCA natural history study (NCT02440763) to determine and compare the rate of disease progression, and assess participants’ health-related quality of life, episodes of depression, and daily life activities.
Additionally, the team aimed to identify factors that may work as predictors of disease progression and survival in SCA patients.
In total, researchers analyzed data from a group of 462 SCA patients followed for more than eight years at 17 different centers across Europe.
They included 107 people with SCA1, 146 with SCA2, 122 with SCA3, and 87 with SCA6. All received at least one follow-up visit.
At baseline, no differences were detected between the various SCA genotypes. During follow-up, the team observed a decrease in quality of life (determined by EQ-5D, a standardized health questionnaire) and in activities of daily living among the group. Rates of decline did not differ among disease types.
However, there was a “trend of faster decline in SCA1 and slower decline in SCA6,” Jacobi said in her presentation.
Increased ataxia severity, depression, cognitive impairment, double vision, and duration of follow-up were the major determinants for the decline observed in life quality and daily life activities.
Depression was seen to evolve in complex and non-linear ways among genotypes, and was influenced by several factors.
“Longer disease duration and lower self-reported health status were risk factors for a higher [depression] score at baseline,” Jacobi said.
In SCA1, SCA2 and SCA6 a faster progression of depressive symptoms was observed, as well as a “progressive aggravation over time,” she added.
The EUROSCA study is ongoing and recruiting participants. Still, these results give a “comprehensive overview about the long-term evolution of quality of life, depression and activities of daily living in the most common SCA disorders SCA1, SCA2, SCA3 and SCA6, as well as the main determining factors,” the study concluded.
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