Pediatrics-1Spinal Muscular Atrophy Type I: Cases of Normal Cognitive Function Despite having Limited Motor Function and Physical-Environmental Interaction

Leaffer, Emily B.; Hinton, Virginia A.; Salazar, Robert D.; Montes, Jacqueline; Young, Sally Dunaway; LaMarca, Nicole Holuba; Vivo, D. De

doi:10.1093/arclin/acv046.17

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“…This is with the caveat that these studies are mostly limited to children and omit the more severe clinical phenotypes (120). Some aspects of childhood development are even deemed superior compared to healthy controls (121)(122)(123)(124)(125). The only neuropsychological study of adults with type II or type III SMA described normal rather than superior cognitive abilities.…”

Section: Spinal Muscular Atrophymentioning

confidence: 99%

Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging

et al. 2021

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Frontotemporal involvement has been extensively investigated in amyotrophic lateral sclerosis (ALS) but remains relatively poorly characterized in other motor neuron disease (MND) phenotypes such as primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), spinal muscular atrophy (SMA), spinal bulbar muscular atrophy (SBMA), post poliomyelitis syndrome (PPS), and hereditary spastic paraplegia (HSP). This review focuses on insights from structural, metabolic, and functional neuroimaging studies that have advanced our understanding of extra-motor disease burden in these phenotypes. The imaging literature is limited in the majority of these conditions and frontotemporal involvement has been primarily evaluated by neuropsychology and post mortem studies. Existing imaging studies reveal that frontotemporal degeneration can be readily detected in ALS and PLS, varying degree of frontotemporal pathology may be captured in PMA, SBMA, and HSP, SMA exhibits cerebral involvement without regional predilection, and there is limited evidence for cerebral changes in PPS. Our review confirms the heterogeneity extra-motor pathology across the spectrum of MNDs and highlights the role of neuroimaging in characterizing anatomical patterns of disease burden in vivo. Despite the contribution of neuroimaging to MND research, sample size limitations, inclusion bias, attrition rates in longitudinal studies, and methodological constraints need to be carefully considered. Frontotemporal involvement is a quintessential clinical facet of MND which has important implications for screening practices, individualized management strategies, participation in clinical trials, caregiver burden, and resource allocation. The academic relevance of imaging frontotemporal pathology in MND spans from the identification of genetic variants, through the ascertainment of presymptomatic changes to the design of future epidemiology studies.

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