McMacken, Grace M.Lochmüller, HannsBansagi, BoglarkaPyle, AngelaLochmüller, AngelaChinnery, Patrick F.Laurie, Steven, 1973-Beltran, SergiMatalonga, LeslieHorvath, Rita2020-10-262020-10-262020McMacken G, Lochmüller H, Bansagi B, Pyle A, Lochmüller A, Chinnery PF, Laurie S, Beltran S, Matalonga L, Horvath R. Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion. J Neurol. 2020 Jul 12;263:3643-9. DOI: 10.1007/s00415-020-10059-30340-5354http://hdl.handle.net/10230/45574Background: 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.application/pdfeng© The Author(s) 2020. Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0/.info:eu-repo/semantics/articlehttp://dx.doi.org/10.1007/s00415-020-10059-3AtaxiaBehr syndromeHereditary spastic paraplegiaNeurogeneticsWhole exome sequencinginfo:eu-repo/semantics/openAccess