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They comprise a large group of neurodegenerative diseases that may be divided into \u2018pure HSP\u2019 in forms of the disease primarily entailing progressive lower-limb weakness and spasticity, and \u2018complex HSP\u2019 when these features are accompanied by other neurological (or non-neurological) clinical signs. Here, we identified biallelic variants in the transmembrane protein 63C (TMEM63C) gene, encoding a predicted osmosensitive calcium-permeable cation channel, in individuals with hereditary spastic paraplegias associated with mild intellectual disability in some, but not all cases. Biochemical and microscopy analyses revealed that TMEM63C is an endoplasmic reticulum-localized protein, which is particularly enriched at mitochondria\u2013endoplasmic reticulum contact sites. Functional in cellula studies indicate a role for TMEM63C in regulating both endoplasmic reticulum and mitochondrial morphologies. Together, these findings identify autosomal recessive TMEM63C variants as a cause of pure and complex HSP and add to the growing evidence of a fundamental pathomolecular role of perturbed mitochondrial-endoplasmic reticulum dynamics in motor neurone degenerative diseases.<\/jats:p>","DOI":"10.1093\/brain\/awac123","type":"journal-article","created":{"date-parts":[[2022,4,14]],"date-time":"2022-04-14T11:12:03Z","timestamp":1649934723000},"page":"3095-3107","source":"Crossref","is-referenced-by-count":43,"title":["TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia"],"prefix":"10.1093","volume":"145","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7684-3811","authenticated-orcid":false,"given":"Luis Carlos","family":"T\u00e1bara","sequence":"first","affiliation":[{"name":"Medical Research Council Mitochondrial Biology Unit, University of Cambridge , Cambridge CB2 0XY , 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