Sensorimotor polyneuropathy in patients with SMA type‐1: Electroneuromyographic findings

Duman, Özgür; Uysal, Hilmi; Skjei, Karen L.; Kizilay, Ferah; Karaüzüm, Sibel Berker; Haspolat, Şenay

doi:10.1002/mus.23722

Cited by 15 publications

(20 citation statements)

References 19 publications

(55 reference statements)

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“…Importantly, sensory pathology in SMA patients is becoming increasingly well characterized ( Supplementary Table 2 ). Several reports of patients with SMA type 1 indicate abnormal sensory conduction ( Duman et al , 2013 ) or absence of sensory responses ( Reid et al , 2016 ), as well as axonal degeneration in sensory nerves ( Rudnik-Schoneborn et al , 2003 ). In earlier studies of presumed SMA cases, axonal degeneration of sensory neurons was also identified, alongside ballooned neurons and chromatolysis within DRGs ( Marshall and Duchen, 1975 ; Carpenter et al , 1978 ; Murayama et al , 1991 ).…”

Section: Discussionmentioning

confidence: 99%

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Shorrock

Hoorn

Boyd

et al. 2018

Brain

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Section: Discussionmentioning

confidence: 99%

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Shorrock

Hoorn

Boyd

et al. 2018

Brain

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“…Electrodiagnostic studies show variable features of motor neuron/axon loss consistent with loss of motor neuron function . Sensory involvement is usually lacking, but exceptional cases have been reported with associated sensory neuropathy or sensory ganglionopathy . Electrodiagnosis remains an important diagnostic tool in atypical cases and non–5q‐related SMA to demonstrate the neurogenic nature of the illness.…”

Section: Other Testing Modalitiesmentioning

confidence: 99%

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

2014

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Spinal muscular atrophy (SMA) describes a group of disorders associated with spinal motor neuron loss. In this review we provide an update regarding the most common form of SMA, proximal or 5q SMA, and discuss the contemporary approach to diagnosis and treatment. Electromyography and muscle biopsy features of denervation were once the basis for diagnosis, but molecular testing for homozygous deletion or mutation of the SMN1 gene allows efficient and specific diagnosis. In combination with loss of SMN1, patients retain variable numbers of copies of a second similar gene, SMN2, which produce reduced levels of the survival motor neuron (SMN) protein that are insufficient for normal motor neuron function. Despite the fact that the understanding of how ubiquitous reduction of SMN protein leads to motor neuron loss remains incomplete, several promising therapeutics are now being tested in early phase clinical trials.

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“…For example, it is now known that multiple different organ systems and cell types are affected in SMA (Nash et al, 2016), including defects in the heart, vasculature and skeletal muscles (Hamilton and Gillingwater, 2013; Shababi et al, 2014). Alongside these systemic pathologies, defects in sensory neurons have been reported in SMA patients, including abnormal sensory conduction (Duman et al, 2013; Yonekawa et al, 2013) or complete absence of sensory nerve action potentials (Yuan and Jiang, 2015; Reid et al, 2016), along with axonal degeneration and loss of myelinated fibers within sensory nerves (Korinthenberg et al, 1997; Omran et al, 1998; Rudnik-Schoneborn et al, 2003). Depending on the type of SMA, varying structural abnormalities in muscle spindles have been described, although some of these findings are contradictory and would require further investigation (Marshall and Duchen, 1975; Bobele et al, 1996; Kararizou et al, 2006).…”

Section: Sensory-motor Defects In Spinal Muscular Atrophy (Sma)mentioning

confidence: 99%

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

Shorrock

Gillingwater

Groen

2019

Front. Mol. Neurosci.

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Activation of skeletal muscle in response to acetylcholine release from the neuromuscular junction triggered by motor neuron firing forms the basis of all mammalian locomotion. Intricate feedback and control mechanisms, both from within the central nervous system and from sensory organs in the periphery, provide essential inputs that regulate and finetune motor neuron activity. Interestingly, in motor neuron diseases, such as spinal muscular atrophy (SMA), pathological studies in patients have identified alterations in multiple parts of the sensory-motor system. This has stimulated significant research efforts across a range of different animal models of SMA in order to understand these defects and their contribution to disease pathogenesis. Several recent studies have demonstrated that defects in sensory components of the sensory-motor system contribute to dysfunction of motor neurons early in the pathogenic process. In this review, we provide an overview of these findings, with a specific focus on studies that have provided mechanistic insights into the molecular processes that underlie dysfunction of the sensory-motor system in SMA. These findings highlight the role that cell types other than motor neurons play in SMA pathogenesis, and reinforce the need for therapeutic interventions that target and rescue the wide array of defects that occur in SMA.

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Sensorimotor polyneuropathy in patients with SMA type‐1: Electroneuromyographic findings

Abstract: Survival motor neuron 1 (SMN1) gene analysis should be considered if clinical features are consistent with SMA, even if pathological or electrophysiological findings demonstrate peripheral sensorimotor polyneuropathies.

Cited by 15 publications

References 19 publications

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

UBA1/GARS-dependent pathways drive sensory-motor connectivity defects in spinal muscular atrophy

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

Molecular Mechanisms Underlying Sensory-Motor Circuit Dysfunction in SMA

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