Motor Neuron Disease (DRAFT)

2018 ◽  
Author(s):  
Tamara Kaplan ◽  
Tracey Milligan
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
Lower Motor Neuron ◽  
Lateral Sclerosis

The video in this chapter explores motor neuron disease, including amytrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA). It discusses the signs of upper motor neuron (UMN) and lower motor neuron (LMN) pathology, as well as Kennedy disease.

Types of Motor Neuron Diseases

2017 ◽  
Author(s):  
Nimish Thakore ◽  
Erik P Pioro
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Muscular Atrophy ◽  
Motor Neuron Diseases ◽  
The Subject ◽  
Upper Motor Neurons ◽  
Lateral Sclerosis

Disorders of lower motor neurons (LMNs, or anterior horn cells) and upper motor neurons (UMNs), jointly termed motor neuron disorders (MNDs), are diverse and numerous. The prototypical MND, namely amyotrophic lateral sclerosis (ALS), a relentlessly progressive lethal disorder of adults, is the subject of another section and will not be discussed further here. Other MNDs include spinal muscular atrophy (SMA), of which there are four types: Kennedy’s disease, Brown-Violetto-Van Laere, and Fazio-Londe syndromes, lower motor neuron disorders as part of neurodegenerations and secondary motor neuron disease as part of malignancy, radiation and infection.

Case 19

2018 ◽  
Author(s):  
Bashar Katirji
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
Multifocal Motor Neuropathy ◽  
Lower Motor Neuron ◽  
Motor Neuropathy ◽  
Motor Neuron Degeneration ◽  
Neuron Degeneration ◽  
Lateral Sclerosis

Amyotrophic lateral sclerosis is a fatal neurological disorder, classically presenting with signs of upper motor neuron and lower motor neuron degeneration. Several motor neuron disease variants with purely upper or lower motor neuron degeneration exist. These includes primary lateral sclerosis, progressive muscular atrophy and progressive bulbar palsy. The diagnostic criteria, including El-Escorial criteria and its most recent Awaji revision, are not used in clinical practice and for research purposes. This case highlights the clinical features and electrodiagnostic characteristics of amyotrophic lateral sclerosis. The findings on nerve conduction studies and needle electromyography are emphasized in detail. The role of electrodiagnostic studies in the diagnosis of amyotrophic lateral sclerosis is to establish evidence of lower motor neuron degeneration, confirm its diffuse nature, and exclude treatable causes (such as multifocal motor neuropathy and mimickers of motor neuron disease such as chronic myopathies).

Motor neuron disease

2018 ◽  
Author(s):  
Martin R. Turner
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Corticospinal Tract ◽  
Muscular Atrophy ◽  
Muscle Denervation ◽  
Genetic Overlap ◽  
Upper Motor Neurons ◽  
Primary Lateral ◽  
Lateral Sclerosis

Motor neuron disease (MND) is characterized by progressive muscular weakness due to simultaneous degeneration of lower and upper motor neurons (L/UMNs). Involvement of LMNs, arising from the anterior horns of the spinal cord and brainstem, leads to secondary wasting as a result of muscle denervation. Involvement of the UMNs of the motor cortex and corticospinal tract results in spasticity. In ~85% of cases, there is clear clinical involvement of both, and the condition is termed ‘amyotrophic lateral sclerosis’ (ALS; a term often used synonymously with MND). In ~13% of cases, there may be only LMN signs apparent, in which case the condition is termed ‘progressive muscular atrophy’, although such cases have a natural history that is to largely identical to that of ALS. In a very small group of patients (~2%), there are only UMN signs for at least the first 4 years, in which case the condition is termed ‘primary lateral sclerosis’; such cases have a uniformly slower progression. There is clinical, neuropathological, and genetic overlap between MND and some forms of frontotemporal dementia.

Role of MAPT in Pure Motor Neuron Disease: Report of a Recurrent Mutation in Italian Patients

2018 ◽  
Vol 18 (5-6) ◽  
pp. 310-314 ◽  
Author(s):  
Paola Origone ◽  
Alessandro Geroldi ◽  
Merit Lamp ◽  
Francesca Sanguineri ◽  
Claudia Caponnetto ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Multiple Gene ◽  
C9orf72 Expansion ◽  
Mapt Gene ◽  
Als Patients ◽  
Lateral Sclerosis ◽  
Pure Motor

The aim of our study was to evaluate the role of mutations in the MAPT gene in patients with pure amyotrophic lateral sclerosis (ALS). A cohort of 120 ALS patients, both sporadic and familial, without cognitive impairment was analyzed by next-generation sequencing with a multiple-gene panel comprising 23 genes, including MAPT, known to be associated with ALS and frontotemporal dementia. The presence of the C9orf72 expansion was also investigated. Twelve patients had mutations in the SOD1, TARDBP, MATR3, and FUS genes, while 10 patients carried the C9orf72 expansion. One female patient was found to carry the D348G mutation in MAPT, previously reported in an Italian family with lower motor neuron disease. Our patient presented both upper and lower motor neuron signs, early development of dyspnea, resting and kinetic tremor, and a slow disease course (> 11 years). The present case further broadens the clinical phenotype associated with MAPT mutations and suggests that, although rarely, MAPT mutations can cause ALS and, therefore, should be analyzed in ALS patients, especially in those with early breathing difficulties and long-lasting disease.

scholarly journals Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

2009 ◽  
Vol 19 (3) ◽  
pp. 420-433 ◽  
Author(s):  
Lyndsay M. Murray ◽  
Sheena Lee ◽  
Dirk Bäumer ◽  
Simon H. Parson ◽  
Kevin Talbot ◽  
...  
Keyword(s):  
Mouse Model ◽  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Muscular Atrophy ◽  
Lower Motor Neuron

scholarly journals Inherited Motor Neuron Disease in Domestic Cats: A Model of Spinal Muscular Atrophy

2005 ◽  
Vol 57 (3) ◽  
pp. 324-330 ◽  
Author(s):  
Qianchuan He ◽  
Charles Lowrie ◽  
G Diane Shelton ◽  
Rudy J Castellani ◽  
Marilyn Menotti-Raymond ◽  
...  
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Muscular Atrophy ◽  
Domestic Cats

scholarly journals Familial adult spinal muscular atrophy associated with the VAPB gene: report of 42 cases in Brazil

2013 ◽  
Vol 71 (10) ◽  
pp. 788-790 ◽  
Author(s):  
Victor Kosac ◽  
Marcos R. G. de Freitas ◽  
Frederico M. Prado ◽  
Osvaldo J. M. Nascimento ◽  
Caroline Bittar
Keyword(s):  
Spinal Muscular Atrophy ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Muscular Atrophy ◽  
Deep Tendon Reflex ◽  
Tendon Reflex ◽  
Slow Progression ◽  
Electrophysiological Studies ◽  
Dominant Disease

Familial spinal muscular atrophy (FSMA) associated with the vesicle-associated membrane protein-associated protein B (VAPB) gene is a rare autosomal dominant disease with late onset and slow progression. We studied 10 of 42 patients from 5 families by taking clinical histories and performing physical exams, electrophysiological studies, and genetic tests. All patients presented late onset disease with slow progression characterized by fasciculations, proximal weakness, amyotrophy, and hypoactive deep tendon reflex, except two who exhibited brisk reflex. Two patients showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies revealed patterns of lower motor neuron disease, and genetic testing identified a P56S mutation of the VAPB gene. Although it is a rare motor neuron disease, FSMA with this mutation might be much more prevalent in Brazil than expected, and many cases may be undiagnosed. Genetic exams should be performed whenever it is suspected in Brazil.

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