Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Cerebellar ataxia-onset ALS with SOD1 D91A mutation: a rare phenotype.

Frontiers in neurology - 1 Jan 2026

Shevchuk Denis V, Nuzhnyi Evgeny P, Fedotova Ekaterina Yu, Ershova Margarita V, Minaev Ivan V, Anikin Georgy A, Protsenko Arina R, Abramycheva Natalia Yu, Zakharova Maria N, Illarioshkin Sergey N

Abstract excerpt

Background: Amyotrophic lateral sclerosis (ALS) associated with mutations in the superoxide dismutase 1 (SOD1) gene is recognized for phenotypic variability, yet cerebellar ataxia as a presenting feature has been reported only in isolated cases. Methods: We describe four unrelated patients: three men and one woman, aged 35 to 49 years at symptom onset, who carried the SOD1 D91A (p.Asp91Ala) mutation. Two patients...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Amyotrophic Lateral Sclerosis
Share to Cerebellar Ataxia

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to SOD1 gene

Share to Mutation

Share to Phenotype

Share to Superoxide Dismutase-1

Source

Open in PubMed Open full text

Identifiers

PMID: 42614182
DOI: 10.3389/fneur.2026.1889931
PMCID: PMC13481206

Genes

SOD1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cerebellar ataxia-onset ALS with SOD1 D91A mutation: a rare phenotype.PMID 42614182Read ↗

Amyotrophic Lateral Sclerosis with SOD1 Mutation Presenting with Progressive Cerebellar Ataxia.Semantic proximity Read ↗

Amyotrophic Lateral Sclerosis with SOD1 mutation presenting with progressive cerebellar ataxiaSemantic proximity Read ↗

Clinical and molecular features of patients with amyotrophic lateral sclerosis and SOD1 mutations: a monocentric studySemantic proximity Read ↗

Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology.Semantic proximity Read ↗

Two Patients With Juvenile-Onset, Rapidly Progressive Amyotrophic Lateral Sclerosis Associated With an SOD1 Variant (p.Asp125Gly) With Incomplete Penetrance.Semantic proximity Read ↗

Sporadic motor neuron disease in a familial novel SOD1 mutation: incomplete penetrance or chance association?Semantic proximity Read ↗

Heterozygous D90A-SOD1 mutation in an Italian ALS patient with atypical presentation.Semantic proximity Read ↗

Progressive spastic tetraplegia and axial hypotonia (STAHP) due to SOD1 deficiency: is it really a new entity?Semantic proximity Read ↗

Autosomal Recessive Cerebellar Ataxia type 1 mimicking multiple sclerosis: A report of two siblings with a novel mutation in SYNE1 gene in a Saudi family.Semantic proximity Read ↗

Clinical and Molecular Landscape of ALS Patients with SOD1 Mutations: Novel Pathogenic Variants and Novel Phenotypes. A Single ALS Center Study.Semantic proximity Read ↗

The human G93A SOD1 phenotype closely resembles sporadic amyotrophic lateral sclerosis.Semantic proximity Read ↗

Novel SOD1 mutation p.V31A identified with a slowly progressive form of amyotrophic lateral sclerosis.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.