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TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum

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Abstract

Hereditary spastic paraplegias (HSPs) constitute movement disorders with extreme lower limb spasticity caused by axonopathies of the upper motor neurons. We describe two siblings affected with a recessive form of movement disorder. Whole-exome sequencing revealed a homozygous missense mutation c.64 C>T (p.Arg22Trp) in TFG as cause of the disorder. Comparison of the phenotype of the patients of this study, with that reported previously, revealed differences in the severity of the disorder as well as new clinical findings. These include presence of clonus, undeveloped speech, and sleep disturbances. Our findings extend the phenotypic spectrum associated with the TFG mutations in HSP.

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Acknowledgements

This study was funded by family RDHT04 and grant #2877 by the Higher Education Commission, Islamabad, Pakistan to SN.

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Authors and Affiliations

  1. School of Biological Sciences, University of the Punjab, Quaid-i-Azam Campus, Lahore, 54590, Pakistan

    Huma Tariq & Sadaf Naz

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  1. Huma Tariq
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  2. Sadaf Naz
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Correspondence to Sadaf Naz.

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The study was approved by the Institutional Review Board at the School of Biological Sciences, University of the Punjab, Lahore, Pakistan. Written informed consent was obtained from all participants and from the parents for their minor children.

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The authors declare that they have no conflict of interest.

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Tariq, H., Naz, S. TFG associated hereditary spastic paraplegia: an addition to the phenotypic spectrum. Neurogenetics 18, 105–109 (2017). https://doi.org/10.1007/s10048-017-0508-6

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  • DOI: https://doi.org/10.1007/s10048-017-0508-6

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