Electromyography and Muscle Biopsy in Infantile Spinal Muscular Atrophy

Buchthal, Fritz; Olsen, P. Zander

doi:10.1093/brain/93.1.15

Cited by 106 publications

(41 citation statements)

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“…The spontaneous serial fascicula-tions noted in one man could have originated from a higher level, from the lower motor neurone in the spinal cord, resulting in atrophic nerve roots. Similarities are apparent between these fasciculations and the spontaneous activity described by Buchthal and Olsen (1970) in infantile spinal muscular atrophy. Furthermore, a lesion in the lower motor neurones cannot be excluded in the cases with abnormal EMG and normal conduction velocities.…”

Section: Discussionsupporting

confidence: 69%

Electrophysiological findings in diphenyl poisoning.

Seppäläinen¹,

Häkkinen²

1975

Journal of Neurology, Neurosurgery & Psychiatry

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SYNOPSISThe fungistatic agent diphenyl caused fatal poisoning with signs of neurotoxicity in a worker in a Finnish paper mill. This initiated a neurophysiological study of 24 workers occupationally exposed to diphenyl. Ten men showed EEG abnormalities, mainly diffuse or generalized ones. The abnormalities persisted on re-examination one and two years later. Nine subjects had EMG abnormalities; seven also exhibited fibrillations in some muscles. One subject showed a long rhythmic series of fasciculations similar to the spontaneous activity described in infantile spinal muscular atrophy. Nerve conduction velocity, especially that of slower motor fibres, was reduced in several cases. Electroneuromyographic abnormalities also persisted on re-examination. Although diphenyl is considered a comparatively safe chemical, it showed evidence of neurotoxicity when workers were exposed to concentrations in excess of the presently accepted threshold limits. Electrophysiological methods should be applied for the early detection of occupational hazards.

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Section: Discussionsupporting

confidence: 69%

Electrophysiological findings in diphenyl poisoning.

Seppäläinen¹,

Häkkinen²

1975

Journal of Neurology, Neurosurgery & Psychiatry

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“…Previous electrophysiological studies of motor neurone disease have indicated the following changes in motor unit properties (Erminio et al, 1959;Buchthal and Olsen, 1970): (1) increased I Addres3 for correspo-idence: Dr. R. B. Stein, Department of Physiology, University of Alberta, Edmonton, Canada. 670 amplitude of the individual motor unit action potential; (2) increased amplitude of the interference pattern during strong voluntary effort;…”

mentioning

confidence: 99%

Contractile and electrical properties of human motor units in neuropathies and motor neurone disease

Milner-Brown

Stein

Lee

1974

Journal of Neurology, Neurosurgery & Psychiatry

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“…(2)) [44]. A unique type of spontaneous activity has been described in small children with SMA, namely regular spontaneous rhythmic motor unit firing (MUF) of 5-14 HZ at rest, in non-REM sleep and during activity [45][46][47][48]. MUF appears correlated with disease severity, being more frequent in severely affected young children.…”

Section: Diagnostic Evaluationmentioning

confidence: 99%

“…This pattern reflects the limited ability of surviving motoneurons for axonal sprouting and reinnervation. Features of reinnervation increase during the course of the disease in type 2 and 3 [44,45], reflecting the capacity for collateral axonal sprouting and muscle hypertrophy. Rarely, low amplitude and short duration units may be observed, which are considered to be 'pseudomyopathic' and of uncertain origin.…”

Section: Diagnostic Evaluationmentioning

confidence: 99%

“…Potential mechanisms included mutation in the promoter region of SMN1, resulting in a reduction in transcription; or alternatively that the SMN1 mutant transcript was unstable and consequently the mRNA was degraded rapidly and not detected by expression analysis. Of relevance, nonsense-mediated messenger RNA decay of SMN1 has been identified as a rare molecular mechanism for subtle mutations, including intronic sequences, to cause SMA [45][46][47][48][49][50][51][52][53][54][55].…”

Section: Illustrative Case Reportmentioning

confidence: 99%

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Spinal Muscular Atrophy: Molecular Mechanisms

Farrar

Johnston²,

Grattan-Smith³

et al. 2009

CMM

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Spinal muscular atrophy (SMA) is a relatively common autosomal recessive neuromuscular disorder characterised by muscle weakness and atrophy due to degeneration of motor neurons of the spinal cord and cranial motor nuclei. The clinical phenotype incorporates a wide spectrum. No effective treatment is currently available and patients may experience severe physical disability which is often life limiting. The most common type of SMA is caused by homozygous disruption of the survival motor neuron 1 (SMN1) gene by deletion, conversion or mutation and results in insufficient levels of survival motor neuron (SMN) protein in motor neurons. While diagnosis is usually achieved by genetic testing, an illustrative clinical case is described that highlights the molecular and diagnostic complexities. While there is an emerging picture concerning the function of the SMN protein and the molecular pathophysiological mechanisms underpinning the disease, a number of substantial issues remain unresolved. The selective vulnerability of the motor neuron and the site and timing of the primary pathogenesis are not yet determined. Utilising the organisation of the SMN genomic region, recent advances have identified a number of potential therapeutic targets. As such, this review incorporates discussion of the clinical manifestations, molecular genetics, diagnosis, mechanisms of disease pathogenesis and development of novel treatment strategies.

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Electromyography and Muscle Biopsy in Infantile Spinal Muscular Atrophy

Cited by 106 publications

References 0 publications

Electrophysiological findings in diphenyl poisoning.

Electrophysiological findings in diphenyl poisoning.

Contractile and electrical properties of human motor units in neuropathies and motor neurone disease

Spinal Muscular Atrophy: Molecular Mechanisms

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