Extra-motor cerebral changes and manifestations in primary lateral sclerosis.

Abstract:

:Primary lateral sclerosis (PLS) is classically considered a 'pure' upper motor neuron disorder. Motor cortex atrophy and pyramidal tract degeneration are thought to be pathognomonic of PLS, but extra-motor cerebral changes are poorly characterized. In a prospective neuroimaging study, forty PLS patients were systematically evaluated with a standardised imaging, genetic and clinical protocol. Patients were screened for ALS and HSP associated mutations, as well as C9orf72 hexanucleotide repeats. Clinical assessment included composite reflex scores, spasticity scales, functional rating scales, and screening for cognitive and behavioural deficits. The neuroimaging protocol evaluated cortical atrophy patterns, subcortical grey matter changes and white matter alterations in whole-brain and region-of-interest analyses. PLS patients tested negative for known ALS- and HSP-associated mutations and C9orf72 repeat expansions. Voxel-wise analyses revealed anterior cingulate, dorsolateral prefrontal, insular, opercular, orbitofrontal and bilateral mesial temporal grey matter changes and white matter alterations in the fornix, brainstem, temporal lobes, and cerebellum. Significant thalamus, caudate, hippocampus, putamen and accumbens nucleus volume reductions were also identified. Extra-motor clinical manifestations were dominated by verbal fluency deficits, language deficits, apathy and pseudobulbar affect. Our clinical and radiological evaluation confirms considerable extra-motor changes in a population-based cohort of PLS patients. Our data suggest that PLS should no longer be considered a neurodegenerative disorder selectively affecting the pyramidal system. PLS is associated with widespread extra-motor changes and manifestations which should be carefully considered in the multidisciplinary management of this low-incidence condition.

journal_name

Brain Imaging Behav

authors

Finegan E,Shing SLH,Chipika RH,Chang KM,McKenna MC,Doherty MA,Hengeveld JC,Vajda A,Pender N,Donaghy C,Hutchinson S,McLaughlin RL,Hardiman O,Bede P

doi

10.1007/s11682-020-00421-4

subject

Has Abstract

pub_date

2021-01-07 00:00:00

eissn

1931-7557

issn

1931-7565

pii

10.1007/s11682-020-00421-4

pub_type

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