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Article

A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

Journal of medical genetics - 1 Mar 2023

Cohen-Barak Eran, Danial-Farran Nada, Chervinsky Elana, Alimi-Kasem Ola, Zagairy Fadia, Livneh Ido, Mawassi Bannan, Hreish Maysa, Khayat Morad, Lossos Alexander, Meiner Vardiella, Ehilevitch Nina, Weiss Karin, Shalev Stavit

Abstract excerpt

BACKGROUND: Monogenic neurodegenerative diseases represent a heterogeneous group of disorders caused by mutations in genes involved in various cellular functions including autophagy, which mediates degradation of cytoplasmic contents by their transport into lysosomes. Abnormal autophagy is associated with hereditary ataxia and spastic paraplegia, amyotrophic lateral sclerosis and frontal dementia, characterised...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 35710109
DOI: 10.1136/jmedgenet-2022-108508

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