scholarly journals Clinical and pathological features of amyotrophic lateral sclerosis caused by mutation in the C9ORF72 gene on chromosome 9p

2012 ◽  
Vol 123 (3) ◽  
pp. 409-417 ◽  
Author(s):  
Heather Stewart ◽  
Nicola J. Rutherford ◽  
Hannah Briemberg ◽  
Charles Krieger ◽  
Neil Cashman ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Pathological Features ◽  
C9orf72 Gene ◽  
Chromosome 9P ◽  
Lateral Sclerosis ◽  
Clinical And Pathological Features

scholarly journals An Unusual Subacute Progressive Motor Neuronopathy with Myasthenia-like Features

1988 ◽  
Vol 15 (3) ◽  
pp. 304-309 ◽  
Author(s):  
J.H. Noseworthy ◽  
A.D. Rae-Grant ◽  
W.F. Brown
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Unusual Case ◽  
Clinical Course ◽  
Subsequent Development ◽  
Response To Treatment ◽  
Pathological Features ◽  
Pathological Findings ◽  
Unusual Variant ◽  
Lateral Sclerosis ◽  
Clinical And Pathological Features

ABSTRACT:The initial presentation and clinical course of this 60-year old woman suggested a diagnosis of myasthenia gravis. The subsequent development of tongue fasciculations and the lack of response to treatment made a diagnosis of amyotrophic lateral sclerosis (ALS) more likely despite the presence of conjugate gaze paresis and the absence of many of the typical clinical and electromyographic (EMG) findings seen in this condition. The pathological findings were consistent with either a motor neuronopathy or an unusual variant of ALS. We review the clinical and pathological features of this unusual case in this report.

scholarly journals Amyotrophic Lateral Sclerosis/Parkinsonism/Dementia: Clinico-Pathological Correlations Relevant to Guamanian ALS/PD

1991 ◽  
Vol 18 (S3) ◽  
pp. 387-389 ◽  
Author(s):  
Arthur J. Hudson
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Nervous System ◽  
Substantia Nigra ◽  
Globus Pallidus ◽  
Neurofibrillary Tangles ◽  
Senile Plaques ◽  
Lewy Bodies ◽  
Pathological Features ◽  
Lateral Sclerosis ◽  
Clinical And Pathological Features

ABSTRACT:In a recent report on the clinical and pathological features of Guamanian ALS/PD and post-encephalitic parkinsonism/ALS a number of similarities were described, notably in the distribution of neurofibrillary tangles throughout the nervous system. In this account additional pathological features which these disorders share (and which differ from classical ALS, Parkinson's and Alzheimer's diseases) are described. These include atrophy of the globus pallidus and the entire substantia nigra, viz. pars compacta and pars reticulata. Moreover, neither Lewy bodies nor senile plaques are features of the Guamanian and post-encephalitic disorders. The significance of these observations and their relationship, more generally, to parkinsonism, ALS and dementia are discussed.

C9orf72 Gene Expression in Frontotemporal Dementia and Amyotrophic Lateral Sclerosis

2020 ◽  
Vol 169 (5) ◽  
pp. 673-676
Author(s):  
Yu. A. Shpilyukova ◽  
E. Yu. Fedotova ◽  
N. Yu. Abramycheva ◽  
I. A. Kochergin ◽  
I. V. Zakroyshchikova ◽  
...  
Keyword(s):  
Gene Expression ◽  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
C9orf72 Gene ◽  
Lateral Sclerosis

scholarly journals Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

Brain ◽  
2012 ◽  
Vol 135 (3) ◽  
pp. 709-722 ◽  
Author(s):  
G.-Y. R. Hsiung ◽  
M. DeJesus-Hernandez ◽  
H. H. Feldman ◽  
P. Sengdy ◽  
P. Bouchard-Kerr ◽  
...  
Keyword(s):  
Frontotemporal Dementia ◽  
Pathological Features ◽  
C9orf72 Mutation ◽  
Chromosome 9P ◽  
Clinical And Pathological Features
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