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Updated: Feb 8, 2026

Using Retinal Imaging to Study Dementia
Published on: November 6, 2017
Clinical exome sequencing in dementias: a preliminary study
Bojan Zalar1, Aleš Maver, Ana Kovanda
1University Psychiatric Clinic Ljubljana, Studenec 48, 1260 Ljubljana, Slovenia, bojan.zalar@guest.arnes.si.
Clinical exome sequencing identified genetic causes in dementias, particularly in younger patients. This approach, combined with C9orf72 testing, shows promise for diagnosing rare genetic neurodegenerative disorders.
Area of Science:
- Neurogenetics
- Neurodegenerative Diseases
Background:
- Dementias present diverse clinical and genetic profiles, often making genetic causes difficult to distinguish.
- Identifying monogenic predispositions is crucial for accurate diagnosis and potential targeted therapies.
Purpose of the Study:
- To assess the diagnostic utility of clinical exome sequencing for identifying monogenic causes of dementia.
- To evaluate the yield of genetic testing in patients with early-onset dementia.
Main Methods:
- Retrospective analysis of 20 patients under 65 with dementia (FTD, EOAD, unspecified).
- Clinical exome sequencing of 57 dementia-associated genes.
- C9orf72 hexanucleotide expansion testing performed on all participants.
Main Results:
- Genetic etiology identified in 6 patients (30% yield).
- Detected mutations include PSEN1 (EOAD), C9orf72 expansion and MAPT (FTD), and MAPT/TYROBP mutations (unspecified dementia).
Conclusions:
- Clinical exome sequencing combined with C9orf72 testing offers significant diagnostic yield for rare genetic dementias.
- This integrated approach aids in identifying the underlying genetic causes of neurodegenerative disorders.
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