Atypical Familial Amyotrophic Lateral Sclerosis Secondary to Superoxide Dismutase 1 Gene Mutation With Coexistent Axonal Polyneuropathy: A Challenging Diagnosis

Cureus ◽

10.7759/cureus.20989 ◽

2022 ◽

Author(s):

Seraj Makkawi ◽

Abdulaziz A Alqarni ◽

Himyan Alghaythee ◽

Suzan Y Alharbi ◽

Anmar Fatani ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Axonal Polyneuropathy ◽

Lateral Sclerosis

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Neuropathology of familial amyotrophic lateral sclerosis patients with superoxide dismutase 1 gene mutation

Neuropathology ◽

10.1111/j.1440-1789.1998.tb00132.x ◽

1998 ◽

Vol 18 (4) ◽

pp. 363-369 ◽

Author(s):

Asao Hirano

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Lateral Sclerosis

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Formation of advanced glycation end-product-modified superoxide dismutase-1 (SOD1) is one of the mechanisms responsible for inclusions common to familial amyotrophic lateral sclerosis patients with SOD1 gene mutation, and transgenic mice expressing human SOD1 gene mutation

Neuropathology ◽

10.1046/j.1440-1789.2001.00359.x ◽

2001 ◽

Vol 21 (1) ◽

pp. 67-81 ◽

Author(s):

Shinsuke Kato ◽

Kenji Nakashima ◽

Seikoh Horiuchi ◽

Ryoji Nagai ◽

Don W. Cleveland ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Advanced Glycation ◽

Sod1 Gene ◽

Advanced Glycation End Product ◽

Lateral Sclerosis

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Astrocytic hyaline inclusions contain advanced glycation endproducts in familial amyotrophic lateral sclerosis with superoxide dismutase 1 gene mutation: immunohistochemical and immunoelectron microscopical analyses

Acta Neuropathologica ◽

10.1007/s004010050983 ◽

1999 ◽

Vol 97 (3) ◽

pp. 260-266 ◽

Author(s):

S. Kato ◽

Seikoh Horiuchi ◽

Kenji Nakashima ◽

Asao Hirano ◽

Noriyuki Shibata ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Advanced Glycation Endproducts ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Advanced Glycation ◽

Glycation Endproducts ◽

Hyaline Inclusions ◽

Lateral Sclerosis

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Anticipation and Phenotypic Heterogeneity in Korean Familial Amyotrophic Lateral Sclerosis with Superoxide Dismutase 1 Gene Mutation

Journal of Clinical Neurology ◽

10.3988/jcn.2007.3.1.38 ◽

2007 ◽

Vol 3 (1) ◽

pp. 38 ◽

Author(s):

Woojun Kim ◽

Joong-Seok Kim ◽

Kwang-Soo Lee ◽

Young-Ju Gwoun ◽

Jin-Mo Kim ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Phenotypic Heterogeneity ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Lateral Sclerosis

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Formation of advanced glycation end‐product‐modified superoxide dismutase‐1 (SOD1) is one of the mechanisms responsible for inclusions common to familial amyotrophic lateral sclerosis patients with SOD1 gene mutation, and transgenic mice expressing human SOD1 gene mutation

Neuropathology ◽

10.1111/j.1440-1789.2001.00359.x ◽

2001 ◽

Vol 21 (1) ◽

pp. 67-81 ◽

Author(s):

Shinsuke Kato ◽

Kenji Nakashima ◽

Seikoh Horiuchi ◽

Ryoji Nagai ◽

Don W. Cleveland ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutation ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Advanced Glycation ◽

Sod1 Gene ◽

Advanced Glycation End Product ◽

Lateral Sclerosis

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Transgenic mouse model for familial amyotrophic lateral sclerosis with superoxide dismutase-1 mutation

Neuropathology ◽

10.1046/j.1440-1789.2001.00361.x ◽

2001 ◽

Vol 21 (1) ◽

pp. 82-92 ◽

Author(s):

Noriyuki Shibata

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Mouse Model ◽

Transgenic Mouse ◽

Transgenic Mouse Model ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Lateral Sclerosis

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New consensus research on neuropathological aspects of familial amyotrophic lateral sclerosis with superoxide dismutase 1 (SOD1) gene mutations: Inclusions containing SOD1 in neurons and astrocytes

Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders ◽

10.1080/14660820050515160 ◽

2000 ◽

Vol 1 (3) ◽

pp. 163-184 ◽

Author(s):

Shinsuke Kato ◽

Miki Takikawa ◽

Kenji Nakashima ◽

Asao Hirano ◽

Don W Cleveland ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Gene Mutations ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Sod1 Gene ◽

Lateral Sclerosis

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MRI detects early hindlimb muscle atrophy in Gly93Ala superoxide dismutase-1 (G93A SOD1) transgenic mice, an animal model of familial amyotrophic lateral sclerosis

NMR in Biomedicine ◽

10.1002/nbm.861 ◽

2004 ◽

Vol 17 (1) ◽

pp. 28-32 ◽

Author(s):

Keith J. Brooks ◽

Mark D. W. Hill ◽

Paul D. Hockings ◽

David G. Reid

Keyword(s):

Animal Model ◽

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Transgenic Mice ◽

Muscle Atrophy ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Hindlimb Muscle ◽

G93a Sod1 ◽

Lateral Sclerosis

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Familial Amyotrophic Lateral Sclerosis with a Novel G85S Mutation of Superoxide Dismutase 1 Gene: Clinical Features of Lower Motor Neuron Disease

Internal Medicine ◽

10.2169/internalmedicine.49.2720 ◽

2010 ◽

Vol 49 (2) ◽

pp. 183-186 ◽

Author(s):

Takanori Takazawa ◽

Ken Ikeda ◽

Takehisa Hirayama ◽

Kiyokazu Kawabe ◽

Yoshikazu Nakamura ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Motor Neuron ◽

Motor Neuron Disease ◽

Clinical Features ◽

Lower Motor Neuron ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Lower Motor Neuron Disease ◽

Lateral Sclerosis

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Stability of Mutant Superoxide Dismutase-1 Associated with Familial Amyotrophic Lateral Sclerosis Determines the Manner of Copper Release and Induction of Thioredoxin in Erythrocytes

Biochemical and Biophysical Research Communications ◽

10.1006/bbrc.1998.8265 ◽

1998 ◽

Vol 244 (2) ◽

pp. 605

Author(s):

Yasuko Ogawa ◽

Hiroaki Kosaka ◽

Toyohumi Nakanishi ◽

Akira Shimizu ◽

Nagato Ohoi ◽

...

Keyword(s):

Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase ◽

Familial Amyotrophic Lateral Sclerosis ◽

Superoxide Dismutase 1 ◽

Copper Release ◽

Lateral Sclerosis

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