Objective: The aim of this study is to define extent of basal ganglia involvement in amyotrophic lateral sclerosis (ALS).

Methods: The study included 45 patients with ALS and 50 healthy-controls. Thirty five patients with ALS had a negative C9orf72 status and 10 patients with ALS carried the C9orf72 hexanucleotide repeat expansion. High-resolution T1-weighted MRI data were used for model-based subcortical registration and segmentation. Changes in basal ganglia diffusivity parameters were also assessed.

Results: Using age as a covariate, patients with ALS who were C9orf72 repeat negative showed significant volume reductions in the left caudate nucleus (p = 0.01), left hippocampus (p = 0.007), and right accumbens nucleus (p = 0.001) compared with healthy controls. Vertex-wise shape analyses revealed changes affecting the superior and inferior aspects of the bilateral thalami, the lateral and inferior portion of the left hippocampus, and the medial and superior aspect of the left caudate. Basal ganglia pathology was more extensive in patients with ALS carrying the C9orf72 hexanucleotide repeat expansion.

Conclusions: Our study showed that ALS is associated with basal ganglia involvement. Caudate nucleus, hippocampus, and nucleus accumbens atrophy are key features of ALS. Dysfunction of frontostriatal networks is likely to contribute to the unique neuropsychological profile of ALS, dominated by executive dysfunction, apathy, and deficits in social cognition.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/association-of-amyotrophic-lateral-sclerosis-with-basal-ganglia-impairment/