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

doi:10.1186/s12916-026-04805-z

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Article

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

BMC medicine - 24 Mar 2026

Estiar Mehrdad A, Yu Eric, Varghaei Parizad, Ross Jay P, Ashtiani Setareh, Bayne Andrew N, Coarelli Giulia, Timmann Dagmar, Klockgether Thomas, Beijer Danique, Mengel David, Coutelier Marie, Dion Patrick A, Suchowersky Oksana, Ewenczyk Claire, Goizet Cyril, Stevanin Giovanni, Van Damme Philip, Al-Chalabi Ammar, Zuchner Stephan, Synofzik Matthis, Veldink Jan H, Trempe Jean-Francois, Durr Alexandra, Rouleau Guy A, Gan-Or Ziv

Abstract excerpt

BACKGROUND: Biallelic SPG7 mutations cause one of the most common forms of hereditary spastic paraplegia (HSP). Several reports have suggested that heterozygous SPG7 variants may also play a role in HSP, but also in amyotrophic lateral sclerosis (ALS). However, it remains controversial whether heterozygous SPG7 mutations are pathogenic on their own, or if other mechanisms are at play. We recently provided...

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Identifiers

PMID: 41877227
DOI: 10.1186/s12916-026-04805-z
PMCID: PMC13134353

Genes

SPG7
AFG3L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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