Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

<p><strong>Purpose:&nbsp;</strong>Biallelic variants in&nbsp;<em>UCHL1</em>&nbsp;have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous&n...

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Bibliographic Details
Main Authors: Park, J, Tucci, A, Cipriani, V, Demidov, G, Rocca, C, Senderek, J, Butryn, M, Velic, A, Lam, T, Galanaki, E, Cali, E, Vestito, L, Maroofian, R, Deininger, N, Rautenberg, M, Admard, J, Hahn, G-A, Bartels, C, van Os, NJH, Horvath, R, Chinnery, PF, Tiet, MY, Hewamadduma, C, Hadjivassiliou, M, Tofaris, GK, Genomics England Research Consortium, Wood, NW, Hayer, SN, Bender, F, Menden, B, Cordts, I, Klein, K, Nguyen, HP, Krauss, JK, Blahak, C, Strom, TM, Sturm, M, van de Warrenburg, B, Lerche, H, Maček, B, Synofzik, M, Ossowski, S, Timmann, D, Wolf, ME, Smedley, D, Riess, O, Schöls, L, Houlden, H, Haack, TB, Hengel, H
Format: Journal article
Language:English
Published: Elsevier 2022

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