Objective: Here, we report a novel presentation of DEPDC5-related disorders in a 41-year-old patient with unilateral tremors and delayed cognitive decline.

Background: DEPDC5 mutations are recognized for their role in familial focal epilepsies, often presenting with seizures originating from structural brain anomalies such as focal cortical dysplasia (FCD). These mutations negatively regulate the mTOR pathway^1-3, leading to cellular over-proliferation and disorganized neuronal migration, manifesting in epilepsy and, in some cases, intellectual delay⁴.

Method: The DEPDC5 mutation c.3604 C>T, p.(P1202S) is heterozygous and presumed to be autosomal dominant. While DEPDC5 has been linked to epilepsy and cortical dysplasia, this case suggests a potential association between an asymmetric outflow kinetic and positional tremor with some residual resting tremor, indicative of cerebellar outflow pathology.

Results: NA

Conclusion: This case enriches the phenotypic spectrum of DEPDC5-related disorders and underscores the need for a nuanced approach to genetic epilepsies.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/expanding-the-neurogenetic-spectrum-a-case-of-depdc5-mutation-presenting-with-unilateral-tremor-and-cognitive-decline/