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

Abstract 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 wheth...

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Principais autores:	Mehrdad A. Estiar, Eric Yu, Parizad Varghaei, Jay P. Ross, Setareh Ashtiani, Andrew N. Bayne, Giulia Coarelli, Dagmar Timmann, Thomas Klockgether, Danique Beijer, David Mengel, Marie Coutelier, Project MinE ALS Sequencing Consortium, Patrick A. Dion, Oksana Suchowersky, Claire Ewenczyk, Cyril Goizet, Giovanni Stevanin, Philip Van Damme, Ammar Al-Chalabi, Stephan Zuchner, Matthis Synofzik, Jan H. Veldink, Jean-Francois Trempe, Alexandra Durr, Guy A. Rouleau, Ziv Gan-Or
Formato:	Artigo
Idioma:	Inglês
Publicado:	BMC 2026-03-01
Series:	BMC Medicine
Assuntos:	Cerebellar disorder Motor neuron disorder Lateral sclerosis Ataxia SPG7 AFG3L2
Acceso en liña:	https://doi.org/10.1186/s12916-026-04805-z
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