Brain MRI abnormalities in a child with spinal muscular atrophy type II

Losito, Luciana; Gennaro, Leonarda; Lucarelli, Elisabetta; Trabacca, Antonio

doi:10.1007/s13760-020-01524-x

Cited by 5 publications

(6 citation statements)

References 12 publications

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“…No supratentorial cortical atrophy was detected (50), but focal cerebellar changes were noted. In the more severe clinical phenotypes, qualitative MRI brain scans have captured more dramatic findings (49,(113)(114)(115). In type 0 SMA, widespread supratentorial, and sometimes infratentorial, brain atrophy has been reported.…”

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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Section: Spinal Muscular Atrophymentioning

confidence: 99%

Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging

et al. 2021

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“…Only one class IV case report of brain MRI in an infant with type 2 SMA was identified [ 19 ]. Delayed myelination with high intensity areas around the posterior horns of the lateral were found, however the cerebral hemisphere, cerebellum, and brainstem were normal.…”

Section: Resultsmentioning

confidence: 99%

“…In contrast to type 1 findings of significant abnormalities in cortical and subcortical structures, one case report of an infant with type 2 SMA revealed a normal brainstem, cerebral hemisphere and cerebellum besides white matter abnormalities [ 19 ]. The nature of type 1 SMA being the most severe may help explain these contrasting findings, however autopsy examinations in two other individuals with type 2 SMA revealed a reduced number of neurons in the primary motor cortex and fewer myelinated fibers in the spinal-pyramidal tract [ 30 ].…”

Section: Discussionmentioning

confidence: 99%

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Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

Nancy

Andrea

Behlim

et al. 2023

Journal of Neuromuscular Diseases

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Background: 5q Spinal Muscular Atrophy (SMA) is a prototypical lower motor neuron disorder. However, the characteristic early motor impairment raises the question on the scope of brain involvement with implications for further investigations on the brain as a potential therapeutic target. Objective: To review changes across the SMA clinical spectrum reported on brain magnetic resonance imaging (MRI). Methods: We conducted a scoping review of existing literature on PubMed and EMBASE. Two reviewers searched and retrieved relevant articles on magnetic resonance brain imaging in individuals with SMA censoring to April 2022. Full-text articles published in peer-reviewed journals or abstracts accepted to conferences in English and French were included. Results: Twelve articles were identified describing a total of 39 patients [age range: 11 days to 41 years old, type 0 (n = 5), type 1 (n = 4), type 2 (n = 2), type 3 (n = 22), type 4 (n = 6)]. All reported structural changes and did not explore other MRI modalities. In individuals with infantile onset SMA, cortical and subcortical brain abnormalities in white matter, basal ganglia, thalamus, hippocampus, and high intensity areas around lateral ventricles and thalami were reported over time. In individuals with later-onset SMA, reduced cerebellar and lobular volume were observed as well as increased grey matter density in motor areas. Conclusions: Limited data on brain imaging in SMA highlights both cortical and subcortical involvement in SMA, supporting the hypothesis that changes are not restricted to lower motor neuron pathways. Further studies are needed to determine the extent and prevalence of structural and functional brain changes across SMA types.

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“…The case emphasizes the probable association between SMA and callosal hypoplasia and some dysmorphic features. To date, there are a few cases with SMA with having brain malformation, including dysplasia of the corpus callosum in SMA type II as well as supratentorial atrophy, widening of sulcus, and ventricles in SMA type 0 [ 14 , 15 ]. Although brain involvement in SMA is still unusual, the underlying pathophysiology should be uncovered.…”

Section: Discussionmentioning

confidence: 99%

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report

Zhu

et al. 2023

BMC Neurol

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Background Spinal Muscular Atrophy (SMA) is a severe neuromuscular disorder due to a defect in the survival motor neuron 1 (SMN1) gene. Hypoplasia of the corpus callosum is underdevelopment or thinness of the corpus callosum. SMA and callosal hypoplasia are relatively rare, and there is limited information sharing the diagnosis and treatment for SMA patients with callosal hypoplasia. Case description A boy with callosal hypoplasia, small penis, and small testes had been perceived with motor regression at 5 months. He was referred to the rehabilitation department and neurology department at 7 months. Physical examination showed absent deep tendon reflexes, proximal weakness and significant hypotonia. He was recommended to perform trio whole-exome sequencing (WES) and array comparative genomic hybridization (aCGH) for his complicated conditions. The subsequent nerve conduction study revealed some characteristics of motor neuron diseases. We identified a homozygous deletion in exon 7 of the SMN1 gene by multiplex ligation-dependent probe amplification and failed to find further pathogenic variations responsible for multiple malformations by trio WES and aCGH. He was diagnosed as SMA. Despite some concerns, he received the therapy of nusinersen for nearly 2 years. He gained the milestone of sitting without support, which he had never accomplished, after the seventh injection, and he continued to improve. During follow-up, there were no adverse events reported and no signs of hydrocephalus. Conclusions Some extra features which could not belong to neuromuscular manifestation made the diagnosis and treatment of SMA more complicated.

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Brain MRI abnormalities in a child with spinal muscular atrophy type II

Cited by 5 publications

References 12 publications

Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging

Frontotemporal Pathology in Motor Neuron Disease Phenotypes: Insights From Neuroimaging

Brain Magnetic Resonance Imaging (MRI) in Spinal Muscular Atrophy: A Scoping Review

Spinal muscular atrophy with hypoplasia of the corpus callosum: a case report

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