Augmentation of natural antiganglioside IgM antibodies in lower motor neuron disease (LMND) and role of CD5+ B cells

1997 ◽  
Vol 53 (9) ◽  
pp. 750-758 ◽  
Author(s):  
R. M. H. Ravindranath ◽  
M. H. Ravindranath ◽  
M. C. Graves
Keyword(s):  
B Cells ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease ◽  
Igm Antibodies

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

Spontaneous lower motor neuron disease with neurofibrillary accumulation in young pigs

1983 ◽  
Vol 59 (4) ◽  
pp. 288-294 ◽  
Author(s):  
R. J. Higgins ◽  
D. M. Rings ◽  
W. R. Fenner ◽  
S. Stevenson
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease ◽  
Young Pigs ◽  
Neurofibrillary Accumulation

scholarly journals Genomic variants causing mitochondrial dysfunction are common in hereditary lower motor neuron disease

2021 ◽  
Vol 42 (4) ◽  
pp. 460-472
Author(s):  
Natalie Keller ◽  
Cem Paketci ◽  
Janine Altmueller ◽  
Nico Fuhrmann ◽  
Gilbert Wunderlich ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Mitochondrial Dysfunction ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Genomic Variants ◽  
Lower Motor Neuron Disease

Lower Motor Neuron Disease

2018 ◽  
pp. 166-175
Author(s):  
Patrick J. Kenny ◽  
Dominic Barfield ◽  
Richard Malik
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease

Lower motor neuron disease caused by a novel FUS/TLS gene frameshift mutation

2012 ◽  
Vol 259 (10) ◽  
pp. 2237-2239 ◽  
Author(s):  
Makoto Hara ◽  
Masayuki Minami ◽  
Satoshi Kamei ◽  
Naoki Suzuki ◽  
Masaaki Kato ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Frameshift Mutation ◽  
Lower Motor Neuron ◽  
Lower Motor Neuron Disease

Lower Motor Neuron Disease with Accumulation of Neurofilaments in a Cat

1976 ◽  
Vol 13 (6) ◽  
pp. 428-435 ◽  
Author(s):  
M. Vandevelde ◽  
C. E. Greene ◽  
E. J. Hoff
Keyword(s):  
Spinal Cord ◽  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Histological Examination ◽  
Muscle Atrophy ◽  
Motor Neurons ◽  
Nerve Cells ◽  
Lower Motor Neuron ◽  
Motor Neuron Diseases ◽  
Lower Motor Neuron Disease

A young cat had signs of tetraparesis that progressed to tetraplegia within a few weeks. Clinically, there was lower motor neuron disease with areflexia and muscle atrophy in all limbs. Degeneration of the motor neurons in the spinal cord was seen on histological examination. Ultrastructurally, the degeneration of nerve cells was characterized by abnormal proliferation of neurofilaments. These findings were compared to other motor neuron diseases and neurofibrillary accumulations in man and animals.

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.

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