Abstract
Abstract
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.
Funder
Newton Fund
Medical Research Council
Lily Foundation
H2020 European Research Council
Wellcome Trust
Canadian Institutes of Health Research
Canadian Institutes of Health Research and Muscular Dystrophy Canada
Canadian Foundation for Innovation
Canada Excellence Research Chairs, Government of Canada
Horizon 2020 research and innovation programme
FP7 Health
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),Neurology
Cited by
9 articles.
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