The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

doi:10.1016/j.neurobiolaging.2017.04.017

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Article

The novel PSEN1 M84V mutation associated to frontal dysexecutive syndrome, spastic paraparesis, and cerebellar atrophy in a dominant Alzheimer's disease family.

Neurobiology of aging - 1 Aug 2017

Gallo Maura, Frangipane Francesca, Cupidi Chiara, De Bartolo Matteo, Turone Sabina, Ferrari Camilla, Nacmias Benedetta, Grimaldi Giuliana, Laganà Valentina, Colao Rosanna, Bernardi Livia, Anfossi Maria, Conidi Maria Elena, Vasso Franca, Curcio Sabrina Anna Maria, Mirabelli Maria, Smirne Nicoletta, Torchia Giusi, Muraca Maria Gabriella, Puccio Gianfranco, Di Lorenzo Raffaele, Piccininni Maristella, Tedde Andrea, Maletta Raffaele Giovanni, Sorbi Sandro, Bruni Amalia Cecilia

Abstract excerpt

We identified the novel PSEN1 pathogenic mutation M84V in 3 patients belonging to a large kindred affected by autosomal dominant Alzheimer's disease (AD). The clinical phenotype was characterized by early onset dementia in 14 affected subjects over 3 generations. Detailed clinical, imaging and genetic assessment was performed. We highlighted the presence of unusual symptoms such as frontal executive syndrome,...

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PMID: 28532646
DOI: 10.1016/j.neurobiolaging.2017.04.017

Genes

PSEN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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