Electrical injury: cervical myelopathy with late onset progressive motor neuron disease

1995 ◽  
Vol 25 (3) ◽  
pp. 263-264 ◽  
Author(s):  
D. GHOSH ◽  
A. GUPTA ◽  
A. KOHLI
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Cervical Myelopathy ◽  
Late Onset ◽  
Electrical Injury

Late onset Sandhoff disease presenting with lower motor neuron disease and stuttering

2021 ◽  
Author(s):  
Jorge Alonso-Pérez ◽  
Ana Casasús ◽  
Álvaro Gimenez-Muñoz ◽  
Jennifer Duff ◽  
Ricard Rojas-Garcia ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Sandhoff Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease

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.

Progressive motor neuron disease associated with electrical injury

1991 ◽  
Vol 14 (10) ◽  
pp. 977-980 ◽  
Author(s):  
Michael D. Sirdofsky ◽  
Rollin J. Hawley ◽  
Herbert Manz
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Electrical Injury

MRI findings in Hirayama's disease: flexion-induced cervical myelopathy or intrinsic motor neuron disease?

1999 ◽  
Vol 246 (11) ◽  
pp. 1069-1074 ◽  
Author(s):  
R. Schröder ◽  
Ewald Keller ◽  
Sebastian Flacke ◽  
Stephan Schmidt ◽  
Christoph Pohl ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Cervical Myelopathy ◽  
Mri Findings ◽  
Intrinsic Motor

Muscle Computed Tomography Features of Motor Neuron Disease in Late-Onset GM2 Gangliosidosis

1995 ◽  
Vol 5 (1) ◽  
pp. 4-8 ◽  
Author(s):  
Jonathan Y. Streifler ◽  
Herzlia Hadar ◽  
Natan Gadoth
Keyword(s):  
Computed Tomography ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Late Onset ◽  
Gm2 Gangliosidosis

Selective disruption of acetylcholine synthesis in subsets of motor neurons: A new model of late-onset motor neuron disease

2014 ◽  
Vol 65 ◽  
pp. 102-111 ◽  
Author(s):  
Marie-José Lecomte ◽  
Chloé Bertolus ◽  
Julie Santamaria ◽  
Anne-Laure Bauchet ◽  
Marc Herbin ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Motor Neurons ◽  
Late Onset ◽  
Acetylcholine Synthesis ◽  
New Model
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