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A Nepalese family with an REEP2 mutation: clinical and genetic study

Journal of Human Genetics volume 66, pages 749–752 (2021)Cite this article

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Abstract

Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been identified as a cause of “pure” HSP, SPG72, with both autosomal dominant and autosomal recessive inheritance. We describe a rare Nepalese family with early-onset pure-type HSP harboring a heterozygous REEP2 missense mutation (c.119T>G, p.Met40Arg). This is only the second SPG72 family with autosomal dominant inheritance. The proband presented slow and spastic gait at age 2 years and the symptoms progressed slowly. The proband’s father and uncle presented even milder symptoms of pure spastic paraplegia. Our study may provide an opportunity to further study the genotype–phenotype correlation of SPG72.

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Acknowledgements

We thank the patients who participated in this study. This work was supported by Grants-in-Aid from the Research Committee for Ataxia (Y.T.), the Ministry of Health, Labor and Welfare, Japan (JPMH20FC1041), and JSPS KAKENHI Grant Number JP18K07495 (Y.T.) from the Ministry of Education, Culture, Sports, Science, and Technology, Japan.

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  1. Department of Neurology, Graduate School of Medical Sciences, University of Yamanashi, Yamanashi, 409-3898, Japan

    Haitian Nan, Ryusuke Takaki, Takanori Hata, Kishin Koh & Yoshihisa Takiyama

  2. Department of Neurology, Iida Hospital, Nagano, 395-8505, Japan

    Ryusuke Takaki

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  1. Haitian Nan
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  2. Ryusuke Takaki
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  3. Takanori Hata
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  4. Kishin Koh
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  5. Yoshihisa Takiyama
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Correspondence to Yoshihisa Takiyama.

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Nan, H., Takaki, R., Hata, T. et al. A Nepalese family with an REEP2 mutation: clinical and genetic study. J Hum Genet 66, 749–752 (2021). https://doi.org/10.1038/s10038-020-00882-x

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