[HTML][HTML] Frontotemporal pathology in motor neuron disease phenotypes: Insights from neuroimaging

MC McKenna, P Corcia, P Couratier, WF Siah… - Frontiers in …, 2021 - frontiersin.org
Frontotemporal involvement has been extensively investigated in amyotrophic lateral
sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease …

[HTML][HTML] Cerebellar pathology in motor neuron disease: neuroplasticity and neurodegeneration

RH Chipika, G Mulkerrin, PF Pradat… - Neural regeneration …, 2022 - journals.lww.com
Amyotrophic lateral sclerosis is a relentlessly progressive multi-system condition. The
clinical picture is dominated by upper and lower motor neuron degeneration, but extra-motor …

[HTML][HTML] Propagation patterns in motor neuron diseases: Individual and phenotype-associated disease-burden trajectories across the UMN-LMN spectrum of MNDs

M Tahedl, SLH Shing, E Finegan, RH Chipika… - Neurobiology of …, 2022 - Elsevier
Motor neuron diseases encompass a divergent group of conditions with considerable
differences in clinical manifestations, survival, and genetic vulnerability. One of the key …

[HTML][HTML] Aging, neurodegenerative disorders, and cerebellum

IY Iskusnykh, AA Zakharova, ED Kryl'skii… - International Journal of …, 2024 - mdpi.com
An important part of the central nervous system (CNS), the cerebellum is involved in motor
control, learning, reflex adaptation, and cognition. Diminished cerebellar function results in …

Cerebellar structural, astrocytic, and neuronal abnormalities in the SMNΔ7 mouse model of spinal muscular atrophy

NC Cottam, T Bamfo, MA Harrington… - Brain …, 2023 - Wiley Online Library
Spinalmuscular atrophy (SMA) is a neuromuscular disease that affects as many as 1 in 6000
individuals at birth, making it the leading genetic cause of infant mortality. A growing number …

Biomarkers of disease progression in adolescents and adults with 5q spinal muscular atrophy: a systematic review and meta-analysis

M Gavriilaki, M Moschou, V Papaliagkas, K Notas… - Neuromuscular …, 2022 - Elsevier
Since the introduction of disease modifying treatments there is an unmet need to identify
biomarkers of spinal muscular atrophy (SMA) natural history. We performed a systematic …

264th ENMC International Workshop: Multi-system involvement in spinal muscular atrophy Hoofddorp, the Netherlands, November 19th–21st 2021

NT Detering, A Zambon, N Hensel… - Neuromuscular …, 2022 - nmd-journal.com
On November 19th− 21st, 2021, a group of 23 scientists and clinicians, along with two
patient advocates, one individual with SMA and three pharma representatives from 11 …

[HTML][HTML] Brain magnetic resonance imaging (MRI) in spinal muscular atrophy: a scoping review

N Mugisha, A Oliveira-Carneiro… - Journal of …, 2023 - content.iospress.com
Background: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron
disorder. However, the characteristic early motor impairment raises the question on the …

Profile of cognitive abilities in spinal muscular atrophy type II and III: what is the role of motor impairment?

B Buchignani, G Cicala, F Moriconi, M Ricci… - Neuromuscular …, 2023 - Elsevier
There has recently been some concern on possible cognitive impairment in patients with
Spinal Muscular Atrophy (SMA). The aim of this study was to assess cognitive profiles in type …

[HTML][HTML] Disrupted individual‐level morphological brain network in spinal muscular atrophy types 2 and 3

Y Li, H Nie, P Xiang, W Shen, M Yan… - CNS Neuroscience & …, 2024 - ncbi.nlm.nih.gov
Methods Individual‐level gray matter (GM) networks were constructed by estimating the
interregional similarity of GM volume distribution using both Kullback–Leibler divergence …