Abstract Details

Title Distinct patterns of cerebellar damage in sporadic and C9ORF72-related ALS

Topic Neuromuscular and Clinical Neurophysiology (EMG)

Presentation(s) S54 - Motor Neuron Disease (4:14 PM-4:25 PM)

Poster/Presentation
Number 005

Background Mounting evidence shows that ALS-related brain damage extends beyond pyramidal tracts and primary motor cortex. Some pathological reports found cerebellar abnormalities in ALS patients. Despite that, no analysis in vivo was performed yet to assess cerebellar involvement in sporadic and genetic forms of the disease.

Objective to assess whether the cerebellum is affected in ALS as well as to compare the pattern of cerebellar damage between sporadic and C9orf72-related ALS.

Design/Methods We have studied 9 symptomatic C9orf72 ALS patients (5 men, mean age 50 yo), 9 symptomatic sporadic ALS patients (3 men, mean age 50.4 yo) and 9 gender and age-matched healthy controls (4 men, mean age 50.8 yo). All patients were regularly followed at UNICAMP or USP-Ribeirão Preto and signed informed consent forms. They underwent MRI scanning on a 3T device and high resolution 3D T1 images were used for volumetric analyses. For every subject, we used the pipeline CERES to compute grey matter volumes of the different cerebellar lobules. Between-group comparisons were carried out using the non-parametric test Mann-Whitney. FDR-corrected p-values <0.05 were considered significant.

Results Both sporadic and C9orf72-related ALS had cerebellar damage compared to controls. However, their patterns of grey matter atrophy were distinct. Sporadic ALS patients had smaller volumes at left lobules I-II and right lobule VI compared to controls (p=0.019 and 0.046, respectively). In contrast, C9orf72-related ALS group presented only left sided lobule X atrophy in comparison to controls (p=0.037). Direct comparison of sporadic vs C9orf72-ALS revealed smaller volumes for left lobules I-II in the former group (p=0.046).

Conclusions This exploratory study reveals not only that the cerebellum is affected in ALS, but also that the pattern of damage is distinct in sporadic and C9orf72-related ALS. It remains to be investigated what the clinical correlates of such damage are, especially cognitive and/or behavioural manifestations

Authors/Disclosures
Fabricio C. Borba, MD (Unicamp) PRESENTER	No disclosure on file
	No disclosure on file
Thiago Rezende (University of Campinas)	No disclosure on file
Lucas D. Branco	No disclosure on file
	No disclosure on file
	No disclosure on file
Marcondes C. Franca, Jr., MD	Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Pfizer. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for PTC. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving as a Consultant for Janssen. Dr. Franca has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Novartis. The institution of Dr. Franca has received research support from FARA.

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