Tremor in motor neuron disease may be central rather than peripheral in origin [PDF]
, 2018 BACKGROUND AND PURPOSE: Motor neuron disease (MND) refers to a spectrum of degenerative diseases affecting motor neurons. Recent clinical and post-mortem observations have revealed considerable variability in the phenotype.
Balint, B +9 more
core +2 more sources
Pathogenesis of proximal autosomal recessive spinal muscular atrophy [PDF]
, 2008 Although it is known that deletions or mutations of the SMN1 gene on chromosome 5 cause decreased levels of the SMN protein in subjects with proximal autosomal recessive spinal muscular atrophy (SMA), the exact sequence of pathological events leading to ...
Šimić, Goran
core +1 more source
Acute intermittent porphyria presenting as progressive muscular atrophy in a young black man.
South African medical journal = Suid-Afrikaanse tydskrif vir geneeskunde, 2014 Acute intermittent porphyria, the most common porphyria affecting the nervous system, typically presents with neurovisceral crises followed by a motor neuropathy. We describe a 23-year-old black South African man presenting with a progressive stuttering,
C. Albertyn +5 more
semanticscholar +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
Defective axonal transport in motor neuron disease [PDF]
, 2007 Several recent studies have highlighted the role of axonal transport in the pathogenesis of motor neuron diseases. Mutations in genes that control microtubule regulation and dynamics have been shown to cause motor neuron degeneration in mice and in a ...
Baas +77 more
core +1 more source
Serum creatinine is a biomarker of progressive denervation in spinal muscular atrophy
Neurology, 2019 Objective Identifying simple biomarkers that can predict or track disease progression in patients with spinal muscular atrophy (SMA) remains an unmet clinical need.
C. Alves +6 more
semanticscholar +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +6 more sources
Spinal Muscular Atrophy With Myoclonic Epilepsy
Archives of Epilepsy, 2017 Spinal muscular atrophy (SMA) is defined by degeneration of anterior horn cells in the spinal cord. Progressive myoclonic epilepsy (PME) is characterized by myoclonic and generalized seizures with progressive neurological deterioration.
Buket ÖZKARA, Faik BUDAK
doaj +1 more source
A trigger-happy soldier with bilateral ptosis and dysphagia
Biomedical Journal, 2015 Muscular dystrophy encompasses a group of disorders characterized by the progressive weakness of the skeletal muscles. These disorders are mostly inherited and have characteristic age and muscle group predilection.
F.M.H. Ahmad, K.V.S. Hari Kumar
doaj +1 more source
Advances and limitations for the treatment of spinal muscular atrophy
BMC Pediatrics, 2022 Spinal muscular atrophy (5q-SMA; SMA), a genetic neuromuscular condition affecting spinal motor neurons, is caused by defects in both copies of the SMN1 gene that produces survival motor neuron (SMN) protein.
J. Day +6 more
semanticscholar +1 more source