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Lookup NU author(s): Dr Grace McMacken, Professor Hanns Lochmuller, Dr Boglarka Bansagi, Dr Angela Pyle, Professor Patrick Chinnery, Professor Rita HorvathORCiD
This work is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0).
© 2020, The Author(s).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.
Author(s): McMacken G, Lochmuller H, Bansagi B, Pyle A, Lochmuller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R
Publication type: Article
Publication status: Published
Journal: Journal of Neurology
Year: 2020
Volume: 267
Issue: 12
Pages: 3643-3649
Print publication date: 01/12/2020
Online publication date: 12/07/2020
Acceptance date: 04/07/2020
Date deposited: 26/07/2021
ISSN (print): 0340-5354
ISSN (electronic): 1432-1459
Publisher: Springer Science and Business Media Deutschland GmbH
URL: https://doi.org/10.1007/s00415-020-10059-3
DOI: 10.1007/s00415-020-10059-3
PubMed id: 32656641
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