RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

doi:10.1093/brain/awae091

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Article

RTN2 deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity.

Brain : a journal of neurology - 5 Jul 2024

Maroofian Reza, Sarraf Payam, O'Brien Thomas J, Kamel Mona, Cakar Arman, Elkhateeb Nour, Lau Tracy, Patil Siddaramappa Jagdish, Record Christopher J, Horga Alejandro, Essid Miriam, Selim Laila, Benrhouma Hanene, Ben Younes Thouraya, Zifarelli Giovanni, Pagnamenta Alistair T, Bauer Peter, Khundadze Mukhran, Mirecki Andrea, Kamel Sara Mahmoud, Elmonem Mohamed A, Ghayoor Karimiani Ehsan, Jamshidi Yalda, Offiah Amaka C, Rossor Alexander M, Youssef-Turki Ilhem Ben, Hübner Christian A, Munot Pinki, Reilly Mary M, Brown André E X, Nagy Sara, Houlden Henry

Abstract excerpt

Heterozygous RTN2 variants have been previously identified in a limited cohort of families affected by autosomal dominant spastic paraplegia (SPG12-OMIM:604805) with a variable age of onset. Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence. In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function...

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PMID: 38527963
DOI: 10.1093/brain/awae091
PMCID: PMC11224604

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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