Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study

Genetic FTD Initiative, GENFI (Benussi Luisa, Ghidoni Roberta, Pievani Michela autori Irccs)

Research output: Contribution to journalArticlepeer-review

Abstract

Frontotemporal dementia (FTD) is a highly heritable condition with multiple genetic causes. In this study, similarities and differences of gray matter (GM) atrophy patterns were assessed among 3 common forms of genetic FTD (mutations in C9orf72, GRN, and MAPT). Participants from the Genetic FTD Initiative (GENFI) cohort with a suitable volumetric T1 magnetic resonance imaging scan were included (319): 144 nonmutation carriers, 128 presymptomatic mutation carriers, and 47 clinically affected mutation carriers. Cross-sectional differences in GM volume between noncarriers and carriers were analyzed using voxel-based morphometry. In the affected carriers, each genetic mutation group exhibited unique areas of atrophy but also a shared network involving the insula, orbitofrontal lobe, and anterior cingulate. Presymptomatic GM atrophy was observed particularly in the thalamus and cerebellum in the C9orf72 group, the anterior and medial temporal lobes in MAPT, and the posterior frontal and parietal lobes as well as striatum in GRN. Across all presymptomatic carriers, there were significant decreases in the anterior insula. These results suggest that although there are important differences in atrophy patterns for each group (which can be seen presymptomatically), there are also similarities (a fronto-insula-anterior cingulate network) that help explain the clinical commonalities of the disease.

Original languageEnglish
Number of pages6
JournalNeurobiology of Aging
Volume62
DOIs
Publication statusE-pub ahead of print - 2017
Externally publishedYes

Keywords

  • Journal Article

Fingerprint

Dive into the research topics of 'Patterns of gray matter atrophy in genetic frontotemporal dementia: results from the GENFI study'. Together they form a unique fingerprint.

Cite this