A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family

@article{Chukhrova2019ANC,
  title={A new case of infantile‐onset hereditary spastic paraplegia with complicated phenotype (SPG61) in a consanguineous Russian family},
  author={A. L. Chukhrova and I. A. Akimova and O. Shchagina and V. A. Kadnikova and O. Ryzhkova and A. Polyakov},
  journal={European Journal of Neurology},
  year={2019},
  volume={26}
}
  • A. L. Chukhrova, I. A. Akimova, +3 authors A. Polyakov
  • Published 2019
  • Medicine
  • European Journal of Neurology
  • SPG61 (OMIM: 615685) is an extremely rare form of complicated hereditary spastic paraplegia [1,2]. To date, only one family with SPG61 has been reported [3]. Here, we describe the second SPG61 case in a Dargin family (from the Russian republic of Dagestan). A consanguineous family without neurological family history (Fig. 1a) was referred to the Research Centre for Medical Genetics (Appendix S1). Patient II.2, a 6-yearold boy, was born at term after an uneventful pregnancy. Birth measures and… CONTINUE READING
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