Autosomal recessive hereditary spastic paraplegia: A rare case of a family with phenotypic variation

Mor Saban, Tal Shachar

Research output: Contribution to journalArticlepeer-review

Abstract

Background: Hereditary spastic paraplegia is a neurodegenerative disorder with a pure and complex form. More than 50 genetic types are currently known, with different ages of onset for characteristic symptoms. Data regarding hereditary spastic paraplegia remain scarce, and the rare subtype of spastic paraplegia type 5 is no exception. Objective: This report presents data regarding the case of a single family, from the city of Djerba, with five individuals affected with hereditary spastic paraplegia, the largest number of spastic paraplegia type 5 mutated family members so far reported in current litera-ture. Methods: To emphasize the importance of genetic testing, we retrospectively reviewed a familial confirmed case of hereditary spastic paraplegia. Clinical features of family members were described. Results: The family presents a large phenotypic variation that, in part, differs from the known phenotypic presentations. Age of onset and clinical manifestation showed interfa-milial variations. The alteration found in CYP7B1 (c.1081C>T; p.R361*) may help emphasize the importance of genetic testing and the much-needed treatment options already in use in current neurological practice. Conclusion: The understanding of the molecular pathways of hereditary spastic paraple-gia, together with the establishment of disease biomarkers, will hopefully lead to better and more personalized treatment.

Original languageEnglish
Pages (from-to)211-215
Number of pages5
JournalCurrent Pharmacogenomics and Personalized Medicine
Volume17
Issue number3
DOIs
StatePublished - 2020
Externally publishedYes

Keywords

  • CYP7B1
  • Djerba
  • Hereditary spastic paraplegia
  • Mutation
  • Phenotype
  • SPG5

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