H46R SOD1 mutation is consistently associated with a relatively benign form of amyotrophic lateral sclerosis with slow progression

2016 ◽  
Vol 17 (7-8) ◽  
pp. 610-613 ◽  
Author(s):  
Zhang-Yu Zou ◽  
Ming-Sheng Liu ◽  
Xiao-Guang Li ◽  
Li-Ying Cui
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Sod1 Mutation ◽  
Slow Progression ◽  
Lateral Sclerosis

A novel SOD1 mutation in a young amyotrophic lateral sclerosis patient with a very slowly progressive clinical course

2010 ◽  
Vol 42 (4) ◽  
pp. 596-597 ◽  
Author(s):  
Eleni Georgoulopoulou ◽  
Cinzia Gellera ◽  
Cinzia Bragato ◽  
Patrizia Sola ◽  
Annalisa Chiari ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinical Course ◽  
Amyotrophic Lateral Sclerosis Patient ◽  
Sod1 Mutation ◽  
Lateral Sclerosis

Combined fulminant frontotemporal dementia and amyotrophic lateral sclerosis associated with an I113T SOD1 mutation

2012 ◽  
Vol 13 (6) ◽  
pp. 567-569 ◽  
Author(s):  
Jonathan S. Katz ◽  
Hans D. Katzberg ◽  
Susan C. Woolley ◽  
Stefan L. Marklund ◽  
Peter M. Andersen
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Frontotemporal Dementia ◽  
Sod1 Mutation ◽  
Lateral Sclerosis

A novel SOD1 mutation in amyotrophic lateral sclerosis with a distinct clinical phenotype

2011 ◽  
Vol 13 (1) ◽  
pp. 149-154 ◽  
Author(s):  
Jun Hu ◽  
Kangning Chen ◽  
Bing Ni ◽  
Lusi Li ◽  
Guisheng Chen ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Clinical Phenotype ◽  
Sod1 Mutation ◽  
Lateral Sclerosis

scholarly journals Two cases of familial amyotrophic lateral sclerosis with a SOD1L126S mutation showing high age at onset and slow progression

2010 ◽  
Vol 50 (3) ◽  
pp. 163-167 ◽  
Author(s):  
Tomo Iwashima ◽  
Takahisa Tateishi ◽  
Ryo Yamasaki ◽  
Kyoko Motomura ◽  
Yasumasa Ohyagi ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Age At Onset ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Slow Progression ◽  
High Age ◽  
Lateral Sclerosis

Familial amyotrophic lateral sclerosis: Molecular pathology of a patient with a SOD1 mutation

Neurology ◽  
1997 ◽  
Vol 49 (6) ◽  
pp. 1612-1616 ◽  
Author(s):  
C. E. Shaw ◽  
Z. E. Enayat ◽  
J. F. Powell ◽  
V.E.R. Anderson ◽  
A. Radunovic ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Molecular Pathology ◽  
Familial Amyotrophic Lateral Sclerosis ◽  
Sod1 Mutation ◽  
Lateral Sclerosis

scholarly journals Case Report: Laryngospasm as Initial Manifestation of Amyotrophic Lateral Sclerosis in a Long-Survival Patient With Heterozygous p.D90A – SOD1 Mutation

2021 ◽  
Vol 12 ◽  
Author(s):  
Giuliana Capece ◽  
Mauro Ceroni ◽  
Enrico Alfonsi ◽  
Ilaria Palmieri ◽  
Cristina Cereda ◽  
...  
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Motor Neurons ◽  
Vocal Cord Paralysis ◽  
Bilateral Vocal Cord Paralysis ◽  
Initial Manifestation ◽  
Long Survival ◽  
Sod1 Mutation ◽  
Insidious Onset ◽  
Different Populations ◽  
Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a fatal neurodegenerative disease affecting motor neurons. Although its etiology is still unknown, many genes have been found to be implicated in ALS pathogenesis. The Cu/Zn superoxide dismutase (SOD1) gene was the first to be identified. Currently, more than 230 mutations in the SOD1 gene have been reported. p.D90A (p. Asp90Ala) is the most common SOD1 mutation worldwide. It shows both autosomal and recessive inheritance in different populations. To date, five Italian patients with the heterozygous p.D90A mutation have been reported. None of them complained of laryngological symptoms as the initial manifestation of ALS, although they had atypical clinical features. We describe a long-survival patient carrying heterozygous p.D90A mutation who presented with severe laryngospasm due to bilateral vocal cord paralysis. We suggest that genetic analysis may help to diagnose ALS with insidious onset like hoarseness, laryngospasm, and other type of voice disturbances.

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