Temporal variant of frontotemporal dementia in C9orf72 repeat expansion carriers: two case studies

Francesca Caso, Federica Agosta, Giuseppe Magnani, Rosalinda Cardamone, Valentina Borghesani, Zachary Miller, Nilo Riva, Renaud La Joie, Giovanni Coppola, Lea T. Grinberg, William W. Seeley, Bruce L. Miller, Maria Luisa Gorno-Tempini, Massimo Filippi

Research output: Contribution to journalArticlepeer-review

Abstract

The temporal variant of frontotemporal dementia (tv-FTD) is a progressive neurodegenerative disease with a complex clinical picture mainly characterized by behavioral and language disorders. In this work, we describe clinical, genetic, neuroanatomical and neuropathological (only in one case) features of two patients with tv-FTD carrying C9orf72 repeat expansion. The first patient (AB) presented with a 1-year disease duration showing focal right anterior temporal lobe (ATL) atrophy on magnetic resonance imaging (MRI). The second patient (BC) came to medical attention 13 years after disease onset and showed a prominent bilateral ATL involvement. Both patients showed naming deficits, impairment in identifying known faces and proper names, and personality changes with new onset behavioral rigidity, and progressing language difficulties to single-word and sentence comprehension difficulties. They were classified as tv-FTD. Clinical, cognitive and MRI follow-up were performed. As cognitive impairment progressed, MRI atrophy worsened in ATL and frontotemporal areas in both patients. Both cases had clear family histories of neurological and/or psychiatric disease. Genetic testing revealed a C9orf72 hexanucleotide repeat expansion in both cases. BC passed away after 15 years of disease and autopsy showed the expected TDP-type B pathology. These genetic cases of tv-FTD highlight the susceptibility of ATL to C9orf72-related pathology and emphasize the importance of genetical testing in FTD-spectrum disorders, regardless of the clinical phenotype.

Original languageEnglish
Pages (from-to)336-345
Number of pages10
JournalBrain Imaging and Behavior
Volume14
Issue number2
DOIs
Publication statusPublished - Apr 1 2020

Keywords

  • C9orf72
  • Language
  • Magnetic resonance imaging
  • Social cognition
  • TDP-43
  • Temporal variant of frontotemporal dementia

ASJC Scopus subject areas

  • Radiology Nuclear Medicine and imaging
  • Neurology
  • Cognitive Neuroscience
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Psychiatry and Mental health
  • Behavioral Neuroscience

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