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Nevertheless, the definitive validity of SPG12 remains to be confidently confirmed due to the scarcity of supporting evidence.<\/jats:p>\n                  <jats:p>In this study, we identified and validated seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven consanguineous families with distal hereditary motor neuropathy (dHMN) using exome, genome and Sanger sequencing coupled with deep-phenotyping.<\/jats:p>\n                  <jats:p>All affected individuals (seven males and seven females, aged 9\u201350\u2005years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity and hyperreflexia, with onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography. Despite a slowly progressive disease course, all patients remained ambulatory over a mean disease duration of 19.71 \u00b1 13.70\u2005years. Characterization of Caenorhabditis elegans RTN2 homologous loss-of-function variants demonstrated morphological and behavioural differences compared with the parental strain. Treatment of the mutant with an endoplasmic\/sarcoplasmic reticulum Ca2+ reuptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences, suggesting a potential therapeutic benefit for RTN2-disorder. Despite RTN2 being an endoplasmic reticulum (ER)-resident membrane shaping protein, our analysis of patient fibroblast cells did not find significant alterations in ER structure or the response to ER stress.<\/jats:p>\n                  <jats:p>Our findings delineate a distinct form of autosomal recessive dHMN with pyramidal features associated with RTN2 deficiency. This phenotype shares similarities with SIGMAR1-related dHMN and Silver-like syndromes, providing valuable insights into the clinical spectrum and potential therapeutic strategies for RTN2-related dHMN.<\/jats:p>","DOI":"10.1093\/brain\/awae091","type":"journal-article","created":{"date-parts":[[2024,3,21]],"date-time":"2024-03-21T12:46:33Z","timestamp":1711025193000},"page":"2334-2343","source":"Crossref","is-referenced-by-count":9,"title":["<i>RTN2<\/i>\n                    deficiency results in an autosomal recessive distal motor neuropathy with lower limb spasticity"],"prefix":"10.1093","volume":"147","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6763-1542","authenticated-orcid":false,"given":"Reza","family":"Maroofian","sequence":"first","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG , 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Jagdish","family":"Patil","sequence":"additional","affiliation":[{"name":"Division of Medical Genetics, Mazumdar Shaw Medical Center, Narayana Hrudayalaya Hospital , Bangalore 560099 , India"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9802-2683","authenticated-orcid":false,"given":"Christopher J","family":"Record","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alejandro","family":"Horga","sequence":"additional","affiliation":[{"name":"Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology , London WC1N 3BG , UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Miriam","family":"Essid","sequence":"additional","affiliation":[{"name":"LR18SP04, Department of Child and Adolescent Neurology, National Institute Mongi Ben Hmida of Neurology, 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