好色先生

好色先生

Explore the latest content from across our publications
Join The AAN

Log In

Forgot Password?
Create New Account

Loading... please wait

Abstract Details

Resting-state Functional Connectivity in Children and Adults with Spinal Muscular Atrophy
Neuromuscular and Clinical Neurophysiology (EMG)
P2 - Poster Session 2 (11:45 AM-12:45 PM)
11-002
This study aimed to investigate resting-state functional connectivity in children and adults with spinal muscular atrophy (SMA).

Despite the use of disease-modifying therapies, many individuals with SMA have chronic motor impairments. Although neuromodulator therapies have been used successfully in other neurological disorders to augment motor learning, the effects of early motor unit dysfunction on brain connectivity in SMA remain largely unknown.
We conducted a multicenter cross-sectional case control study of individuals with 5q SMA and peer controls matched by age and sex. Blood oxygen level dependent (BOLD) fluctuations at rest were acquired on a 3T magnetic resonance imaging (MRI) scanner. Seed-based functional connectivity analyses were performed using CONN in SPM12, with site as a covariate. Connectivity between regions of interest identified on primary analysis, expressed as Fisher-transformed correlation coefficients, were then assessed for correlation with motor function scores and SMN2 copy number.
A total of 42 participants completed the study procedures, with a mean age of 17.4 years (range 7-40) and comprising 67% males. Compared to their peer controls, individuals with SMA demonstrated lower functional connectivity within the cerebellum and within salience network regions, alongside higher functional connectivity between the precentral gyri and the default mode network (corrected p<0.05). No association between the connectivity values and motor function or SMN2 copy number was observed in individuals with SMA when controlling for age at MRI and site.

Differences in resting-state functional connectivity in individuals with SMA encompass various brain regions, extending beyond motor areas. Insights into the reorganization of brain networks in SMA may open new pathways for adjunctive therapies to augment motor and other types of learning in symptomatic patients, optimizing outcomes.
Authors/Disclosures
Emilie Groulx-Boivin, MD
PRESENTER 		The institution of Dr. Groulx-Boivin has received research support from Muscular Dystrophy Canada.
Helen Carlson No disclosure on file
Andrea Oliveira-Carneiro No disclosure on file
Amalia Floer (University of Calgary/Alberta Children's Hospital) No disclosure on file
Adam Kirton, MD (Alberta Children'S Hospital) Dr. Kirton has received personal compensation in the range of $10,000-$49,999 for serving as an Expert Witness for Multiple. The institution of Dr. Kirton has received research support from Multiple.
Jean K. Mah, MD, FRCPC, FAAN (University of Calgary) Dr. Mah has nothing to disclose.
Christine Saint-Martin No disclosure on file
Roberta La Piana (McGill University) Roberta La Piana has received research support from Canadian Institute Health Research. Roberta La Piana has received research support from Ataxia Canada. Roberta La Piana has received research support from Spastic Paraplegia Foundation. Roberta La Piana has received research support from Fonds de Recherche en Santé du Quebec. Roberta La Piana has received research support from Roche Canada. Roberta La Piana has received research support from ARSACS Foundation.
Maryam Oskoui, MD, FAAN (Montreal Children's Hospital - McGill University Health Centre) Dr. Oskoui has received personal compensation in the range of $500-$4,999 for serving as an officer or member of the Board of Directors for the Association des Neurologues du Quebec. The institution of Dr. Oskoui has received research support from Hoffmann-La Roche Ltd. The institution of Dr. Oskoui has received research support from Muscular Dystrophy Canada. The institution of Dr. Oskoui has received research support from Canadian Institutes of Health Research. The institution of Dr. Oskoui has received research support from Santhera. The institution of Dr. Oskoui has received research support from Novartis. The institution of Dr. Oskoui has received research support from Fonds de Recherche du Québec. Dr. Oskoui has a non-compensated relationship as a Member of the Medical and Scientific Advisory Committee with Muscular Dystrophy Canada that is relevant to AAN interests or activities.