SPG7 and Impaired Emotional Communication

Linwei Zhang, Karen N. McFarland, S. H. Subramony, Kenneth M. Heilman, Tetsuo Ashizawa

Research output: Contribution to journalArticle

4 Scopus citations

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.

Original languageEnglish (US)
Pages (from-to)595-598
Number of pages4
JournalCerebellum
Volume16
Issue number2
DOIs
StatePublished - Apr 1 2017

Keywords

  • Cerebellar ataxia
  • Emotional disconnection
  • Hereditary spastic paraplegia
  • SPG7

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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