Article

Digenic inheritance of mutations in <i>SPG7</i> and <i>AFG3L2</i> causes motor neuron and cerebellar disorders

2025-07-08

Abstract excerpt

<h4>Background</h4> 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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Literature Corpus work: 0fb495c6-de5d-566f-877b-2b49986ccf2e
DOI: 10.1101/2025.07.05.24312261

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