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dc.contributor.authorMcMacken, Grace
dc.contributor.authorLochmüller, Hanns
dc.contributor.authorBansagi, Boglarka
dc.contributor.authorPyle, Angela
dc.contributor.authorLochmüller, Angela
dc.contributor.authorChinnery, Patrick F.
dc.contributor.authorLaurie, Steve
dc.contributor.authorBeltran, Sergi
dc.contributor.authorMatalonga, Leslie
dc.contributor.authorHorvath, Rita
dc.date.accessioned2020-11-19T16:19:29Z
dc.date.available2020-11-19T16:19:29Z
dc.date.issued2020-07-12
dc.date.submitted2020-05-17
dc.identifier.issn0340-5354
dc.identifier.others00415-020-10059-3
dc.identifier.other10059
dc.identifier.urihttps://www.repository.cam.ac.uk/handle/1810/313116
dc.descriptionFunder: Lily Foundation
dc.descriptionFunder: Canadian Institutes of Health Research and Muscular Dystrophy Canada
dc.description.abstractAbstract: Background: Behr syndrome is a clinically distinct, but genetically heterogeneous disorder characterized by optic atrophy, progressive spastic paraparesis, and motor neuropathy often associated with ataxia. The molecular diagnosis is based on gene panel testing or whole-exome/genome sequencing. Methods: Here, we report the clinical presentation of two siblings with a novel genetic form of Behr syndrome. We performed whole-exome sequencing in the two patients and their mother. Results: Both patients had a childhood-onset, slowly progressive disease resembling Behr syndrome, starting with visual impairment, followed by progressive spasticity, weakness, and atrophy of the lower legs and ataxia. They also developed scoliosis, leading to respiratory problems. In their late 30’s, both siblings developed a hypertrophic cardiomyopathy and died of sudden cardiac death at age 43 and 40, respectively. Whole-exome sequencing identified the novel homozygous c.627_629del; p.(Gly210del) deletion in UCHL1. Conclusions: The presentation of our patients raises the possibility that hypertrophic cardiomyopathy may be an additional feature of the clinical syndrome associated with UCHL1 mutations, and highlights the importance of cardiac follow-up and treatment in neurodegenerative disease associated with UCHL1 mutations.
dc.languageen
dc.publisherSpringer Berlin Heidelberg
dc.rightsAttribution 4.0 International (CC BY 4.0)en
dc.rights.urihttps://creativecommons.org/licenses/by/4.0/en
dc.subjectOriginal Communication
dc.subjectNeurogenetics
dc.subjectBehr syndrome
dc.subjectHereditary spastic paraplegia
dc.subjectAtaxia
dc.subjectWhole exome sequencing
dc.titleBehr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion
dc.typeArticle
dc.date.updated2020-11-19T16:19:29Z
prism.endingPage3649
prism.issueIdentifier12
prism.publicationNameJournal of Neurology
prism.startingPage3643
prism.volume267
dc.identifier.doi10.17863/CAM.60219
dcterms.dateAccepted2020-07-04
rioxxterms.versionofrecord10.1007/s00415-020-10059-3
rioxxterms.versionVoR
rioxxterms.licenseref.urihttp://creativecommons.org/licenses/by/4.0/
dc.contributor.orcidHorvath, Rita [0000-0002-9841-170X]
dc.identifier.eissn1432-1459
pubs.funder-project-idNewton Fund (MR/N027302/1)
pubs.funder-project-idMedical Research Council (MR/N025431/1)
pubs.funder-project-idH2020 European Research Council (309548)
pubs.funder-project-idWellcome Trust (201064/Z/16/Z)
pubs.funder-project-idCanadian Institutes of Health Research (FDN-167281)
pubs.funder-project-idCanadian Foundation for Innovation (CFI-JELF 38412)
pubs.funder-project-idCanada Excellence Research Chairs, Government of Canada (950-232279)
pubs.funder-project-idHorizon 2020 research and innovation programme (779257)
pubs.funder-project-idFP7 Health (305444)


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Attribution 4.0 International (CC BY 4.0)
Except where otherwise noted, this item's licence is described as Attribution 4.0 International (CC BY 4.0)