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

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., Downes SM., Németh AH., 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.

DOI

10.1016/j.gim.2023.100961

Type

Journal article

Publication Date

2023-10-01T00:00:00+00:00

Volume

25

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