Article
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Oct 2022
Park Joohyun, Tucci Arianna, Cipriani Valentina, Demidov German, Rocca Clarissa, Senderek Jan, Butryn Michaela, Velic Ana, Lam Tanya, Galanaki Evangelia, Cali Elisa, Vestito Letizia, Maroofian Reza, Deininger Natalie, Rautenberg Maren, Admard Jakob, Hahn Gesa-Astrid, Bartels Claudius, van Os Nienke J H, Horvath Rita, Chinnery Patrick F, Tiet May Yung, Hewamadduma Channa, Hadjivassiliou Marios, Tofaris George K, Wood Nicholas W, Hayer Stefanie N, Bender Friedemann, Menden Benita, Cordts Isabell, Klein Katrin, Nguyen Huu Phuc, Krauss Joachim K, Blahak Christian, Strom Tim M, Sturm Marc, van de Warrenburg Bart, Lerche Holger, Maček Boris, Synofzik Matthis, Ossowski Stephan, Timmann Dagmar, Wolf Marc E, Smedley Damian, Riess Olaf, Schöls Ludger, Houlden Henry, Haack Tobias B, Hengel Holger
Abstract excerpt
PURPOSE: Biallelic variants in UCHL1 have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1 variants on the basis of results from cohort-based burden analyses. METHODS: Gene-burden analyses were performed on exome and genome data of independent cohorts of patients with hereditary ataxia and...
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