Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Laura Tavaglione; Niccolò Madonia; Lucia Corrado; Cristoforo Comi; Sandra D’Alfonso; Letizia Mazzini; Fabiola De Marchi

doi:10.1080/17582024.2026.2676822

May 25, 2026Neurodegenerative Disease Management

Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

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Key Points

The study aims to expand the understanding of phenotypic variations in SOD1-related ALS, particularly focusing on upper motor neuron involvement.
Case analysis of a p.D91A SOD1 variant
Assessment of clinical features related to motor neuron involvement
Discussion on genetic testing implications
Identification of predominant upper motor neuron symptoms in the case examined
Emphasis on the necessity of early genetic testing to enable timely access to therapies

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Implication

Case highlights upper motor neuron predominance in ALS, suggesting early genetic testing for better treatment outcomes.

Abstract

phenotypic spectrum and highlights the importance of early genetic testing in atypical motor syndromes, given the availability of targeted therapies where diagnostic delay may limit benefit.

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Cite This Study

Tavaglione et al. (2026) studied this question.

synapsesocial.com/papers/6a168ac80c924ddd1bd59921 https://doi.org/10.1080/17582024.2026.2676822

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Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

Expanding the phenotypic spectrum of SOD1‑related ALS: upper motor neuron predominance in a p.D91A case

Key Points

Ask about this paper

Implication

Abstract

Discussion

Cite This Study

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