Journal article icon

Journal article

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

Abstract:

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 spastic paraplegia from Germany and the United Kingdom in a total of 3169 patients ...

Expand abstract
Publication status:
Published
Peer review status:
Peer reviewed

Actions


Access Document


Publisher copy:
10.1016/j.gim.2022.07.006

Authors


Publisher:
Elsevier Publisher's website
Journal:
Genetics in Medicine Journal website
Publication date:
2022-08-20
Acceptance date:
2022-07-03
DOI:
EISSN:
1530-0366
ISSN:
1098-3600
Pmid:
35986737
Language:
English
Keywords:
Pubs id:
1275383
Local pid:
pubs:1275383
Deposit date:
2022-08-26

Terms of use


Views and Downloads






If you are the owner of this record, you can report an update to it here: Report update to this record

TO TOP