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Related Experiment Video

Updated: May 30, 2026

A Quick Phenotypic Neurological Scoring System for Evaluating Disease Progression in the SOD1-G93A Mouse Model of ALS

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Published on: October 6, 2015

D11Y SOD1 mutation and benign ALS: a consistent genotype-phenotype correlation.

A Del Grande¹, A Conte, S Lattante

¹Institute of Neurology, Catholic University of Sacred Heart, Rome, Italy.

Journal of the Neurological Sciences

|August 16, 2011

Summary

A specific mutation in the SOD1 gene (D11Y) was identified in three individuals with sporadic Amyotrophic Lateral Sclerosis (ALS). This mutation is linked to a unique disease presentation and prolonged survival in ALS patients.

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Published on: October 4, 2017

Area of Science:

Neuroscience
Genetics
Molecular Biology

Background:

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disease.
Mutations in the Superoxide Dismutase 1 (SOD1) gene are implicated in some forms of ALS.
Understanding genotype-phenotype correlations is crucial for ALS research.

Observation:

Three patients with sporadic ALS were identified.
A D11Y mutation in the SOD1 gene was detected in all three patients.
These patients exhibited prolonged survival and initial distal limb involvement.

Findings:

The D11Y SOD1 mutation is associated with a distinct ALS phenotype.
This specific mutation appears to influence disease progression and clinical presentation.
The findings support the pathogenetic role of the D11Y SOD1 mutation in ALS.

Implications:

This research contributes to the understanding of SOD1-related ALS.
The identified phenotype may aid in earlier diagnosis and personalized treatment strategies.
Further investigation into the D11Y mutation's mechanism is warranted.