Abstract
ObjectiveCerebellar disease burden and cerebro-cerebellar connectivity alterations are poorly characterised in amyotrophic lateral sclerosis (ALS) despite the likely contribution of cerebellar pathology to the clinical heterogeneity of the condition.MethodsA prospective...
Highlights
While cerebellar involvement is a recognised feature of amyotrophic lateral sclerosis (ALS), anatomical patterns of cerebellar disease burden are poorly characterised in vivo, cerebro-cerebellar connectivity changes are mostly inferred from functional studies, and the cerebellar signatures of specific genotypes are not firmly established
While the link between frontotemporal dementia and ALS has been cemented, the notion of an ALS–ataxia continuum remains contentious despite the association of intermediate-length CAG repeat expansions in ATXN2 with ALS1 and shared clinical features with spinocerebellar ataxias
Consistent with previous reports, we observed an excess of ALS cases in which the larger ATXN2 allele was in the intermediate range of 27–33 repeats, as well as six patients with ALS and one healthy controls (HC) with >33 repeats
Summary
While cerebellar involvement is a recognised feature of amyotrophic lateral sclerosis (ALS), anatomical patterns of cerebellar disease burden are poorly characterised in vivo, cerebro-cerebellar connectivity changes are mostly inferred from functional studies, and the cerebellar signatures of specific genotypes are not firmly established. Common clinical manifestations of ALS, such as pseudobulbar affect, dysarthria, dysphagia, eye movement abnormalities, behavioural dysfunction and deficits in social cognition, are often exclusively linked to corticobulbar tract degeneration, brainstem and cranial nerve pathology, orbitofrontal atrophy, etc, which overlooks the likely contribution of cerebellar pathology to these symptoms.[5,6,7] The pitfalls of linking imaging findings directly to clinical observations are well recognised,[8] but the real value of computational imaging in ALS lies in its ability to characterise disease burden patterns in vivo in an impartial, descriptive, observer- independent fashion.
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