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. 2016 Feb 21:11:287-290.
doi: 10.1016/j.nicl.2016.02.008. eCollection 2016.

Patterns of regional cerebellar atrophy in genetic frontotemporal dementia

Martina Bocchetta  1 , M Jorge Cardoso  2 , David M Cash  2 , Sebastien Ourselin  3 , Jason D Warren  1 , Jonathan D Rohrer  4
Affiliations

Patterns of regional cerebellar atrophy in genetic frontotemporal dementia

Martina Bocchetta et al. Neuroimage Clin. .

Abstract

Background: Frontotemporal dementia (FTD) is a heterogeneous neurodegenerative disorder with a strong genetic component. The cerebellum has not traditionally been felt to be involved in FTD but recent research has suggested a potential role.

Methods: We investigated the volumetry of the cerebellum and its subregions in a cohort of 44 patients with genetic FTD (20 MAPT, 7 GRN, and 17 C9orf72 mutation carriers) compared with 18 cognitively normal controls. All groups were matched for age and gender. On volumetric T1-weighted magnetic resonance brain images we used an atlas propagation and label fusion strategy of the Diedrichsen cerebellar atlas to automatically extract subregions including the cerebellar lobules, the vermis and the deep nuclei.

Results: The global cerebellar volume was significantly smaller in C9orf72 carriers (mean (SD): 99989 (8939) mm(3)) compared with controls (108136 (7407) mm(3)). However, no significant differences were seen in the MAPT and GRN carriers compared with controls (104191 (6491) mm(3) and 107883 (6205) mm(3) respectively). Investigating the individual subregions, C9orf72 carriers had a significantly lower volume than controls in lobule VIIa-Crus I (15% smaller, p < 0.0005), whilst MAPT mutation carriers had a significantly lower vermal volume (10% smaller, p = 0.001) than controls. All cerebellar subregion volumes were preserved in GRN carriers compared with controls.

Conclusion: There appears to be a differential pattern of cerebellar atrophy in the major genetic forms of FTD, being relatively spared in GRN, localized to the lobule VIIa-Crus I in the superior-posterior region of the cerebellum in C9orf72, the area connected via the thalamus to the prefrontal cortex and involved in cognitive function, and localized to the vermis in MAPT, the 'limbic cerebellum' involved in emotional processing.

Keywords: C9orf72; Cerebellum; Genetic frontotemporal dementia.

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Figures

Fig. 1
Fig. 1
Segmentation of the cerebellar lobules and deep nuclei (left side) mapped on a T1-weighted 3T MR image of a control subject. On the right panel significant volumetric differences in FTD are mapped on the same MR image.
See this image and copyright information in PMC

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