Adult-onset spinal muscular atrophy: An update

Juntas-Morales, Raul; Pageot, Nicolas; Taïeb, Guillaume; Camu, William

doi:10.1016/j.neurol.2017.03.015

Cited by 19 publications

(14 citation statements)

References 84 publications

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“…Spinal muscular atrophy (SMA) is a group of progressive neurodegenerative that affects lower motor neurons. The most frequent form is due to homozygous deletions in the SMN1 gene [141]. SMN (survival of motor neurons) proteins are ubiquitously expressed and have been involved in different functions, including snRNP transport, nuclear RNA splicing and profilin and actin-dependent axonal transport [142].…”

Section: Lessons From Other Neurodegenerative Diseasesmentioning

confidence: 99%

“…This relationship remains to be demonstrated in neurons. Infrequent variants of SMA have been associated with mutations in the BICD2 (a dynein adaptor protein) and DYNC1H1 (dynein heavy chain) genes [141]. It is not known whether the GC of these patients is damaged, but if it is demonstrated that they are, alteration of microtubule-dependent transport might be the cause.…”

Section: Lessons From Other Neurodegenerative Diseasesmentioning

confidence: 99%

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Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?

Martı́nez-Menárguez

Tomàs

Martínez-Martínez

et al. 2019

Cells

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In most mammalian cells, the Golgi complex forms a continuous ribbon. In neurodegenerative diseases, the Golgi ribbon of a specific group of neurons is typically broken into isolated elements, a very early event which happens before clinical and other pathological symptoms become evident. It is not known whether this phenomenon is caused by mechanisms associated with cell death or if, conversely, it triggers apoptosis. When the phenomenon was studied in diseases such as Parkinson’s and Alzheimer’s or amyotrophic lateral sclerosis, it was attributed to a variety of causes, including the presence of cytoplasmatic protein aggregates, malfunctioning of intracellular traffic and/or alterations in the cytoskeleton. In the present review, we summarize the current findings related to these and other neurodegenerative diseases and try to search for clues on putative common causes.

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Section: Lessons From Other Neurodegenerative Diseasesmentioning

confidence: 99%

Section: Lessons From Other Neurodegenerative Diseasesmentioning

confidence: 99%

Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?

Martı́nez-Menárguez

Tomàs

Martínez-Martínez

et al. 2019

Cells

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“…It is only rarely included in international patient database and registries [1,16–19]. SMA type 4 is a complex neurodegenerative disorder that can be overlooked and has a wide differential diagnosis with other adult‐onset neurogenic and myopathic disorders [20–22]. In our sample, most cases had previously been misdiagnosed in other centres as myopathic disorders (limb‐girdle muscular dystrophy) and neurogenic conditions (such as sporadic young‐onset or juvenile ALS), reflecting poor awareness among most neurologists about adult‐onset SMA, with the wrong current belief that 5q‐SMA is a disease that generally affects children.…”

Section: Discussionmentioning

confidence: 98%

Clinical and radiological profile of patients with spinal muscular atrophy type 4

Souza

Pinto

Ricarte³

et al. 2020

Euro J of Neurology

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Background and purposeSpinal muscular atrophy (SMA) is the most important cause of motor neuron disease in childhood, and continues to represent the leading genetic cause of infant death. Adulthood‐onset SMA (SMA type 4) is rare, with few isolated cases reported. The objective of the present study was to describe a cohort of patients with SMA type 4.MethodsA cross‐sectional study was conducted to characterize clinical, genetic, radiological and neurophysiological features of patients with adulthood‐onset SMA. Correlation analysis of functional assessment with genetic, radiological and neurophysiological data was performed.ResultsTwenty patients with SMA type 4 were identified in a Brazilian cohort of 227 patients with SMA. The most common clinical symptom was limb‐girdle muscle weakness, observed in 15 patients (75%). The most frequent neurological findings were absent tendon reflexes in 18 (90%) and fasciculations in nine patients (45%). Sixteen patients (80%) had the homozygous deletion of exon 7 in the SMN1 gene, with 12 patients (60%) showing four copies of the SMN2 gene. The functional scales Hammersmith Functional Motor Scale Expanded, Amyotrophic Lateral Sclerosis Functional Rating Scale Revised, Revised Upper Limb Module and Spinal Muscular Atrophy Functional Rating Scale, as well as the six‐minute walk and the Time Up and Go tests showed a correlation with duration of disease. Motor Unit Number Index was correlated both with duration of disease and with performance in functional assessment. Radiological studies exhibited a typical pattern, with involvement of biceps femoris short head and gluteus minimus in all patients.ConclusionThis study represents the largest cohort of patients with SMA type 4 and provides functional, genetic, radiological and neurophysiological features that can be used as potential biomarkers for the new specific genetic therapies for SMA.

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“…Type 4 SMA has either three or four copies of SMN2. 10 Genetic testing and absence of family cases in the patient's history excluded this diagnosis. Studies describe cerebrovascular disease as representing up to 9% of the ALS mimics in one population-based registry, after cervical spondylotic myeloradiculopathy (18.86%) and "MND plus" syndromes (13.2%), 8 so a proper investigation in this area is mandatory, for the optimal exclusion of diseases mimicking ALS.…”

Section: Discussionmentioning

confidence: 99%

“…The genetic component of this disease consists of homozygous deletions in the SMN1 (survival motor neuron) gene with the presence of three or four copies of SMN2 gene in SMA type 4, making this form a milder one. 10 This diagnosis was excluded by genetic testing and also by the absence of cases in family history. 3.…”

Section: Differential Diagnosismentioning

confidence: 99%

Severe cervical compressive polydiscopathic myelopathy with features of motor neuron disease: A case report

Văcăraș

Hapca

Drăghici

et al. 2021

Clinical Case Reports

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Cervical myelopathy is a well-known cause of disability among elderly. It is included in the amyotrophic lateral sclerosis (ALS) mimic syndrome and could resemble motor neuron disease. We present the case of a 70-year-old patient with severe cervical compressive polydiscopathic myelopathy with clinical findings of motor neuron disease. Cervical myelopathy is a widely spread cause of disability among elderly. 1 The clinical decline is progressive, and this condition should be taken into consideration in patients over 55 years old with loss of motor control of the upper limbs, gait disorders, or sphincter dysfunction. Quality of life could be severely impaired in these patients, evidence showing that beyond the motor, sensory, and bladder dysfunctions recorded with myelopathy scales, there is also impairment of emotional and mental health. 2 There are several diseases reunited together under the name of amyotrophic lateral sclerosis (ALS) mimic syndrome which can present with a clinical phenotype of motor neuron disease and therefore require to be considered as a differential diagnosis. As ALS is a progressive disease, with disability and with a fatal prognosis, the implications of a misdiagnosis can be of a great importance for patients and their relatives. 3 In population-based studies, it is estimated that 8%-10% of patients referred to a tertiary referral MND (motor neuron disease) center with a diagnosis of ALS will ultimately turn out to have another condition. 4 At the same time, a recent review describes a number of clinical presentations of ALS with (a) motor neuron involvement (ALS or primary lateral sclerosis, or upper motor neuron predominant ALS, or progressive muscular atrophy, or lower motor neuron predominant ALS); (b) bulbar or spinal onset; (c) focal onset (progressive bulbar palsy, pseudobulbar palsy, flail arm and flail leg); and (d) cognitive involvement (ALS with cognitive impairment and ALS with frontotemporal dementia). 5 One of the clinical entities of ALS mimic syndrome that can resemble motor neuron disease is cervical myelopathy, which has a better prognosis than ALS and can be alleviated by neurosurgical intervention in most of the cases. Therefore, a clear separation of these entities at the early stage is mandatory

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Adult-onset spinal muscular atrophy: An update

Cited by 19 publications

References 84 publications

Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?

Golgi Fragmentation in Neurodegenerative Diseases: Is There a Common Cause?

Clinical and radiological profile of patients with spinal muscular atrophy type 4

Severe cervical compressive polydiscopathic myelopathy with features of motor neuron disease: A case report

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