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Article

Clinicopathological description of two cases with SQSTM1 gene mutation associated with frontotemporal dementia

3 Aug 2015

Abstract excerpt

There is a strong genetic influence on the clinicopathological phenotypes associated with frontotemporal lobar degeneration (FTLD) and frontotemporal dementia (FTD). Intracellular deposition of TDP-43 is the phenotypical hallmark of a frequent subgroup of cases. Mutations in the sequestosome 1 (SQSTM1) gene have rarely been found in individuals with FTD. Here we provide a comprehensive clinicopathological...

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PMID: 26234378
DOI: 10.1111/neup.12233

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