Embryological Origins and Genetics in Frontotemporal Dementia

Frontotemporal dementia (FTD) represents a heterogeneous group of neurodegenerative disorders marked by progressive deterioration in behavior, language, and executive function. While its genetic architecture dominated by mutations in C9orf72, GRN, and MAPT has been widely studied, less attention has been given to how early neurodevelopmental processes may shape regional vulnerability. This review integrates current findings in molecular genetics with insights from embryonic development of the frontal and temporal lobes. Key signaling pathways such as Wnt, SHH, and Notch are examined in the context of FTD-related pathology. Emphasis is placed on how embryological disruption may predispose cortical regions to later neurodegeneration. The clinical implications of these developmental-genetic interactions are also explored, underscoring their relevance in future biomarker discovery and therapeutic targeting.

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Publication Details

Journal
Ahi Evran Medical Journal
Published
2025-12-22
DOI
https://doi.org/10.46332/aemj.1652578
Primary Topic
Amyotrophic Lateral Sclerosis Research
Type
article
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article

Embryological Origins and Genetics in Frontotemporal Dementia

Emine Berrin YÜKSEL, Zeynep Hayırlıoğlu, Zeliha Yücel
Ahi Evran Medical Journal
Amyotrophic Lateral Sclerosis Research
article

Embryological Origins and Genetics in Frontotemporal Dementia

Emine Berrin YÜKSEL, Zeynep Hayırlıoğlu, Zeliha Yücel
article en

Abstract

Frontotemporal dementia (FTD) represents a heterogeneous group of neurodegenerative disorders marked by progressive deterioration in behavior, language, and executive function. While its genetic architecture dominated by mutations in C9orf72, GRN, and MAPT has been widely studied, less attention has been given to how early neurodevelopmental processes may shape regional vulnerability. This review integrates current findings in molecular genetics with insights from embryonic development of the frontal and temporal lobes. Key signaling pathways such as Wnt, SHH, and Notch are examined in the context of FTD-related pathology. Emphasis is placed on how embryological disruption may predispose cortical regions to later neurodegeneration. The clinical implications of these developmental-genetic interactions are also explored, underscoring their relevance in future biomarker discovery and therapeutic targeting.

Ahi Evran Medical JournalVol. 9(3)
Ankara Sosyal Bilimler Üniversitesi (TR), Karamanoğlu Mehmetbey University (TR)
Openalex Percentile: Top 31%
Amyotrophic Lateral Sclerosis Research
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Embryological Origins and Genetics in Frontotemporal Dementia — Emine Berrin YÜKSEL, Zeynep Hayırlıoğlu, et al. · Ahi Evran Medical Journal (2025) | TGRS Research Map | TGRS