scholarly journals Motor neuron involvement expands the neuropathological phenotype of late‐onset ataxia in RFC1 mutation (CANVAS)

2022 ◽  
Author(s):  
David Reyes‐Leiva ◽  
Iban Aldecoa ◽  
Ellen Gelpi ◽  
Ricard Rojas‐García
Keyword(s):  
Motor Neuron ◽  
Late Onset

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.

scholarly journals Cerebellar atrophy on top of motor neuron compromise as indicator of late-onset GM2 gangliosidosis

2021 ◽  
Author(s):  
Hans Thomas Hölzer ◽  
Felix Boschann ◽  
Julia B. Hennermann ◽  
Gabriele Hahn ◽  
Andreas Hermann ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Late Onset ◽  
Cerebellar Atrophy ◽  
Gm2 Gangliosidosis

scholarly journals Late onset radiation-induced motor neuron syndrome.

1992 ◽  
Vol 55 (8) ◽  
pp. 741-742 ◽  
Author(s):  
R A Grunewald ◽  
E Chroni ◽  
C P Panayiotopoulos ◽  
T P Enevoldson
Keyword(s):  
Motor Neuron ◽  
Late Onset ◽  
Radiation Induced ◽  
Motor Neuron Syndrome

scholarly journals Fasciculations in Late-Onset Pompe Disease: A Sign of Motor Neuron Involvement?

2017 ◽  
Vol 44 (4) ◽  
pp. 463-464
Author(s):  
Mauro Monforte ◽  
Serenella Servidei ◽  
Enzo Ricci ◽  
Giorgio Tasca
Keyword(s):  
Motor Neuron ◽  
Pompe Disease ◽  
Late Onset

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
Sign in / Sign up

Export Citation Format

Share Document