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Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum

Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum
Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum
Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features. The cerebellum has long been known to be crucial for intact motor function although emerging evidence over the past decade has attributed cognitive and neuropsychiatric processes to this structure. The current study set out i) to establish the integrity of cerebellar subregions in the amyotrophic lateral sclerosis-behavioural variant frontotemporal dementia spectrum (ALS-bvFTD) and ii) determine whether specific cerebellar atrophy regions are associated with cognitive, neuropsychiatric and motor symptoms in the patients. Seventy-eight patients diagnosed with ALS, ALS-bvFTD, behavioural variant frontotemporal dementia (bvFTD), most without C9ORF72 gene abnormalities, and healthy controls were investigated. Participants underwent cognitive, neuropsychiatric and functional evaluation as well as structural imaging using voxel-based morphometry (VBM) to examine the grey matter subregions of the cerebellar lobules, vermis and crus. VBM analyses revealed: i) significant grey matter atrophy in the cerebellum across the whole ALS-bvFTD continuum; ii) atrophy predominantly of the superior cerebellum and crus in bvFTD patients, atrophy of the inferior cerebellum and vermis in ALS patients, while ALS-bvFTD patients had both patterns of atrophy. Post-hoc covariance analyses revealed that cognitive and neuropsychiatric symptoms were particularly associated with atrophy of the crus and superior lobule, while motor symptoms were more associated with atrophy of the inferior lobules. Taken together, these findings indicate an important role of the cerebellum in the ALS-bvFTD disease spectrum, with all three clinical phenotypes demonstrating specific patterns of subregional atrophy that associated with different symptomology.
1932-6203
Tan, Rachel H.
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Devenney, Emma
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Dobson-Stone, Carol
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Kwok, John B.
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Hodges, John R.
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Kiernan, Matthew C.
7c00071b-b150-4ddf-a1de-0be728850d39
Halliday, Glenda M.
4ca4b3d5-2f8d-48b8-95cc-3664643742bc
Hornberger, Michael
a48c1c63-422a-4c11-9a51-c7be0aa3026d
Tan, Rachel H.
d95992a7-805d-4ec7-8b3b-571c8c64706e
Devenney, Emma
0858f260-5fd9-40dc-8730-4b068cb15d05
Dobson-Stone, Carol
57c078e6-d516-4256-9dde-46bc335ba586
Kwok, John B.
bdffbad0-2916-488e-8329-8713944e818b
Hodges, John R.
7e7a95ab-a65f-42a1-8c01-30917e6b2f3d
Kiernan, Matthew C.
7c00071b-b150-4ddf-a1de-0be728850d39
Halliday, Glenda M.
4ca4b3d5-2f8d-48b8-95cc-3664643742bc
Hornberger, Michael
a48c1c63-422a-4c11-9a51-c7be0aa3026d

Tan, Rachel H., Devenney, Emma, Dobson-Stone, Carol, Kwok, John B., Hodges, John R., Kiernan, Matthew C., Halliday, Glenda M. and Hornberger, Michael (2014) Cerebellar Integrity in the Amyotrophic Lateral Sclerosis - Frontotemporal Dementia Continuum. PLoS ONE, 9 (8). (doi:10.1371/journal.pone.0105632).

Record type: Article

Abstract

Amyotrophic lateral sclerosis (ALS) and behavioural variant frontotemporal dementia (bvFTD) are multisystem neurodegenerative disorders that manifest overlapping cognitive, neuropsychiatric and motor features. The cerebellum has long been known to be crucial for intact motor function although emerging evidence over the past decade has attributed cognitive and neuropsychiatric processes to this structure. The current study set out i) to establish the integrity of cerebellar subregions in the amyotrophic lateral sclerosis-behavioural variant frontotemporal dementia spectrum (ALS-bvFTD) and ii) determine whether specific cerebellar atrophy regions are associated with cognitive, neuropsychiatric and motor symptoms in the patients. Seventy-eight patients diagnosed with ALS, ALS-bvFTD, behavioural variant frontotemporal dementia (bvFTD), most without C9ORF72 gene abnormalities, and healthy controls were investigated. Participants underwent cognitive, neuropsychiatric and functional evaluation as well as structural imaging using voxel-based morphometry (VBM) to examine the grey matter subregions of the cerebellar lobules, vermis and crus. VBM analyses revealed: i) significant grey matter atrophy in the cerebellum across the whole ALS-bvFTD continuum; ii) atrophy predominantly of the superior cerebellum and crus in bvFTD patients, atrophy of the inferior cerebellum and vermis in ALS patients, while ALS-bvFTD patients had both patterns of atrophy. Post-hoc covariance analyses revealed that cognitive and neuropsychiatric symptoms were particularly associated with atrophy of the crus and superior lobule, while motor symptoms were more associated with atrophy of the inferior lobules. Taken together, these findings indicate an important role of the cerebellum in the ALS-bvFTD disease spectrum, with all three clinical phenotypes demonstrating specific patterns of subregional atrophy that associated with different symptomology.

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Accepted/In Press date: 22 July 2014
Published date: 21 August 2014

Identifiers

Local EPrints ID: 505124
URI: http://eprints.soton.ac.uk/id/eprint/505124
ISSN: 1932-6203
PURE UUID: 09cf132d-a2ad-4383-8908-59e883347db2
ORCID for Michael Hornberger: ORCID iD orcid.org/0000-0002-2214-3788

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Date deposited: 29 Sep 2025 17:49
Last modified: 30 Sep 2025 02:25

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Contributors

Author: Rachel H. Tan
Author: Emma Devenney
Author: Carol Dobson-Stone
Author: John B. Kwok
Author: John R. Hodges
Author: Matthew C. Kiernan
Author: Glenda M. Halliday
Author: Michael Hornberger ORCID iD

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