Neurol Genet 2020 Dec 13;6(6):e525. Epub 2020 Oct 13.
Friedrich Baur Institute at the Department of Neurology (F.R., T.K.), University Hospital, LMU Munich; Institute of Human Genetics (K.M.R., T.M., M.W.), Klinikum rechts der Isar, Technical University of Munich; Department of Nephrology (K.M.R.), Klinikum rechts der Isar, Technical University of Munich; Department of Ophthalmology (L.F.K.), Ludwig-Maximilians-University, Munich; Department of Pediatrics (G.G.), Division for Neuropediatrics and Metabolic Medicine, University Hospital Heidelberg; Institute of Human Genetics (T.M., M.W.), Helmholtz Zentrum München, Neuherberg; German Center for Neurodegenerative Diseases (DZNE) (T.K.), Munich; Munich Cluster of Systems Neurology (SyNergy) (T.K.), Munich; and Institute of Neurogenomics (M.W.), Helmholtz Zentrum München, Neuherberg, Germany.
Objective: To expand the genetic spectrum of hereditary spastic paraparesis by a treatable condition and to evaluate the therapeutic effects of biotin supplementation in an adult patient with biotinidase deficiency (BD).
Methods: We performed exome sequencing (ES) in a patient with the clinical diagnosis of complex hereditary spastic paraparesis. The patient was examined neurologically, including functional rating scales. Read More