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SPG7 and Impaired Emotional Communication

A Correction to this article was published on 27 November 2017

This article has been updated

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.

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Change history

  • 27 November 2017

    The original version of this article unfortunately contained an incorrect assignment of affiliations of Linwei Zhang and Tetsuo Ashizawa.

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Acknowledgment

The study was supported by the UF Sparkman Fund and NIH grant NS083564 to TA and NIH Grant AG044449 to KMH.

Author Contributions

Dr. Zhang—acquisition of data, drafting the manuscript, analysis and interpretation of data

Dr. McFarland—study concept and design, acquisition of data, analysis and interpretation, critical revision of the manuscript for important intellectual content

Dr. Subramony—critical revision of the manuscript for important intellectual content, acquisition of data

Dr. Heilman—acquisition of data, analysis and interpretation, critical revision of the manuscript for important intellectual content

Dr. Ashizawa—study concept and design, acquisition of data, critical revision of the manuscript for important intellectual content, study supervision

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Corresponding author

Correspondence to Tetsuo Ashizawa.

Ethics declarations

Samples were collected under a protocol approved by the University of Florida’s Institutional Review Board (IRB) and following informed consent.

Conflict of Interest

Drs. Zhang and McFarland report no disclosures.

Dr. Subramony receives research support from IONIS (previously ISIS) Pharmaceuticals, REATA Pharmaceuticals and Horizon Pharmaceuticals.

Dr. Heilman receives a grant from NIH #AG044449 and a contract from the Department of Elder Affairs of the State of Florida.

Dr. Ashizawa has received grants from IONIS (previously ISIS) Pharmaceuticals, the Myotonic Dystrophy Foundation and the Muscular Dystrophy Association. Dr. Ashizawa receives a grant from NIH (#NS083564) and received an honorarium for serving as a consultant for BioHaven Pharmaceuticals.

Additional information

Linwei Zhang and Karen N. McFarland have equal contribution as the first author.

A correction to this article is available online at https://doi.org/10.1007/s12311-017-0901-6.

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Zhang, L., McFarland, K.N., Subramony, S...H. et al. SPG7 and Impaired Emotional Communication. Cerebellum 16, 595–598 (2017). https://doi.org/10.1007/s12311-016-0818-5

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Keywords

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