Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

Our findings demonstrate that digenic inheritance of concurrent heterozygous mutations in SPG7 and AFG3L2 may cause motor neuron and cerebellar disorders. Screening of the entire SPG7 and AFG3L2 genes in genetically undiagnosed cases of MND and spastic ataxia may help to increase the diagnostic yield.

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Publication Details

Journal
BMC Medicine
Published
2026-03-24
DOI
https://doi.org/10.1186/s12916-026-04805-z
Primary Topic
Hereditary Neurological Disorders
Type
article
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article

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

BMC Medicine
Hereditary Neurological Disorders
article

Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders

article en

Abstract

Our findings demonstrate that digenic inheritance of concurrent heterozygous mutations in SPG7 and AFG3L2 may cause motor neuron and cerebellar disorders. Screening of the entire SPG7 and AFG3L2 genes in genetically undiagnosed cases of MND and spastic ataxia may help to increase the diagnostic yield.

BMC Medicine
Broad Institute (US), Montreal Neurological Institute and Hospital (CA), Centre National de la Recherche Scientifique (FR), Université de Bordeaux (FR), University of Ottawa (CA), University of Alberta (CA), Inserm (FR), King's College London (GB), University Hospital Bonn (DE), German Center for Neurodegenerative Diseases (DE), Alberta Children's Hospital (CA), University Medical Center Utrecht (NL), Sorbonne Université (FR), Assistance Publique – Hôpitaux de Paris (FR), McGill Genome Centre (CA), Dr. John T. Macdonald Foundation (US), Hertie Institute for Clinical Brain Research (DE), Institut du Cerveau (FR), McGill University (CA), University of Duisburg-Essen (DE), University of Tübingen (DE), KU Leuven (BE)
Openalex Percentile: Top 10%
Hereditary Neurological Disorders
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Digenic inheritance of mutations in SPG7 and AFG3L2 causes motor neuron and cerebellar disorders · BMC Medicine (2026) | TGRS Research Map | TGRS