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Heterozygous UCHL1loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy

Authors :
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.
Ambrose, J.C.
Arumugam, P.
Baple, E.L.
Bleda, M.
Boardman-Pretty, F.
Boissiere, J.M.
Boustred, C.R.
Brittain, H.
Caulfield, M.J.
Chan, G.C.
Craig, C.E.H.
Daugherty, L.C.
de Burca, A.
Devereau, A.
Elgar, G.
Foulger, R.E.
Fowler, T.
Furió-Tarí, P.
Hackett, J.M.
Halai, D.
Hamblin, A.
Henderson, S.
Holman, J.E.
Hubbard, T.J.P.
Ibáñez, K.
Jackson, R.
Jones, L.J.
Kasperaviciute, D.
Kayikci, M.
Lahnstein, L.
Lawson, K.
Leigh, S.E.A.
Leong, I.U.S.
Lopez, F.J.
Maleady-Crowe, F.
Mason, J.
McDonagh, E.M.
Moutsianas, L.
Mueller, M.
Murugaesu, N.
Need, A.C.
Odhams, C.A.
Patch, C.
Perez-Gil, D.
Polychronopoulos, D.
Pullinger, J.
Rahim, T.
Rendon, A.
Riesgo-Ferreiro, P.
Rogers, T.
Ryten, M.
Savage, K.
Sawant, K.
Scott, R.H.
Siddiq, A.
Sieghart, A.
Smedley, D.
Smith, K.R.
Sosinsky, A.
Spooner, W.
Stevens, H.E.
Stuckey, A.
Sultana, R.
Thomas, E.R.A.
Thompson, S.R.
Tregidgo, C.
Tucci, A.
Walsh, E.
Watters, S.A.
Welland, M.J.
Williams, E.
Witkowska, K.
Wood, S.M.
Zarowiecki, M.
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
Source :
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2079-2090, 12p
Publication Year :
2022

Abstract

Biallelic variants in UCHL1have been associated with a progressive early-onset neurodegenerative disorder, autosomal recessive spastic paraplegia type 79. In this study, we investigated heterozygous UCHL1variants on the basis of results from cohort-based burden analyses.

Details

Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
10
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs61982710
Full Text :
https://doi.org/10.1016/j.gim.2022.07.006