title: SPG7 and Impaired Emotional Communication.
abstract: The goal of this report is to describe the genetic mutations of a patient with cerebellar degeneration who had ataxia and impaired emotional communication that led to damage of family relationships. We extracted genomic DNA from peripheral blood lymphocytes and performed whole exome sequencing (WES) in this patient and his unaffected parents and siblings. Found mutations were confirmed by Sanger sequencing in each individual. We found compound heterozygous mutations in the paraplegin (SPG7) gene. One mutated allele has been previously described as a disease-causing missense mutation for spastic paraplegia type 7 (SPG7) (c.1529C > T, p.Ala510Val). The second mutated allele involved a single nucleotide deletion which results in a frameshift in the coding sequence (c.2271delG, p.Met757fs*65). The second allele is similar to, but unique from, other described, SPG7-linked truncation mutations. The abnormal emotional communication in this patient broadens the phenotypic boundary of SPG7.
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.|Neuroscience Research Program, Houston Methodist Research Institute, R11-117, 6565 Fannin Street, Houston, TX, 77030, USA.
authors.forename: Linwei
authors.initials: L
authors.lastname: Zhang
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.
authors.forename: Karen N
authors.initials: KN
authors.lastname: McFarland
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.
authors.forename: S H
authors.initials: SH
authors.lastname: Subramony
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA.
authors.forename: Kenneth M
authors.initials: KM
authors.lastname: Heilman
authors.affiliation: McKnight Brain Institute and the Department of Neurology, College of Medicine, University of Florida, Gainesville, FL, 32610, USA. tashizawa@houstonmethodist.org.|Department of Neurology, Houston Methodist Neurological Institute, R11-117, 6565 Fannin Street, Houston, TX, 77030, USA. tashizawa@houstonmethodist.org.|Department of Neurology, China-Japan Friendship Hospital, Yinghua East Street, Chaoyang District, Beijing, 100029, China. tashizawa@houstonmethodist.org.
authors.forename: Tetsuo
authors.initials: T
authors.lastname: Ashizawa
mesh_terms: D000074183:ATPases Associated with Diverse Cellular Activities; D000328:Adult; D001259:Ataxia / Q000235:genetics / Q000523:psychology; D003147:Communication Disorders / Q000235:genetics*; D004252:DNA Mutational Analysis; D004644:Emotions; D006801:Humans; D008297:Male; D008666:Metalloendopeptidases / Q000235:genetics*; D009154:Mutation; D015419:Spastic Paraplegia, Hereditary / Q000235:genetics* / Q000523:psychology*
chemical_list: D008666:Metalloendopeptidases; C112889:SPG7 protein, human; D000074183:ATPases Associated with Diverse Cellular Activities
keywords: Cerebellar ataxia; Emotional disconnection; Hereditary spastic paraplegia; SPG7