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[C9orf72-associated frontotemporal dementia in the Russian population]
Yu A Shpilyukova1, E Yu Fedotova1, E S Berdnikovich1
1Research Center of Neurology, Moscow, Russia.
Zhurnal Nevrologii I Psikhiatrii Imeni S.S. Korsakova
|October 21, 2020
Summary
The C9orf72 repeat expansion is found in 14% of Russian frontotemporal dementia (FTD) patients, with higher rates in behavioral variant FTD. This study defines prevalence and clinical features of C9orf72-associated FTD in Russia.
Area of Science:
- Neuroscience
- Genetics
- Neurology
Background:
- Frontotemporal dementia (FTD) is a neurodegenerative disorder with various genetic causes.
- The C9orf72 gene is a known major genetic contributor to FTD.
- Understanding the genetic landscape of FTD in diverse populations is crucial for diagnosis and treatment.
Purpose of the Study:
- To determine the frequency of C9orf72 repeat expansions in Russian patients diagnosed with FTD.
- To characterize the clinical presentation of individuals with C9orf72-associated FTD in this population.
- To investigate the association of C9orf72 expansions with familial versus sporadic FTD cases.
Main Methods:
- A cohort of 28 FTD patients (15 behavioral variant FTD, 13 agrammatic/non-fluent variant primary progressive aphasia) underwent genetic testing.
- DNA analysis was performed using repeat-primed polymerase chain reaction to detect GGGGCC-repeat expansions in the C9orf72 gene.
- Clinical data, including age of onset, disease duration, family history, and specific symptoms, were collected and analyzed.
Main Results:
- The C9orf72 repeat expansion was identified in 14% of all FTD patients, with a 20% frequency in behavioral variant FTD and 8% in agrammatic/non-fluent variant primary progressive aphasia.
- Familial FTD cases showed a higher prevalence of C9orf72 expansions (31%) compared to sporadic cases (7%).
- Clinical manifestations included motor symptoms like parkinsonian syndrome and amyotrophic lateral sclerosis (ALS) in some carriers, alongside typical behavioral and aphasic disturbances.
Conclusions:
- This study establishes the prevalence and clinical spectrum of C9orf72-associated FTD within the Russian population.
- The findings highlight the importance of genetic diagnostics for C9orf72 expansions in FTD patients for accurate diagnosis.
- Identifying C9orf72 carriers is essential for patient stratification in clinical trials and for potential targeted therapeutic interventions.
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