TARDBP mutation associated with semantic variant primary progressive aphasia, case report and review of the literature

Area of Science:

• Neuroscience
• Genetics
• Neurology

Background:

• Semantic variant primary progressive aphasia (svPPA) is a clinical syndrome within the frontotemporal dementia (FTD) spectrum.
• svPPA is typically sporadic and not commonly associated with motor neuron disease (MND).

Observation:

• A family presented with both svPPA and MND.
• The affected individuals carried a mutation in the transactive response DNA binding protein (TARDBP) gene.

Findings:

• This case highlights a familial occurrence of svPPA and MND.
• The TARDBP gene mutation is implicated in the co-occurrence of these conditions.

Implications:

• This finding expands the known clinical spectrum associated with TARDBP mutations.
• It suggests a potential genetic link between svPPA and MND in certain families.
• Further research into TARDBP's role in neurodegenerative diseases is warranted.