Title:Autosomal Recessive Hereditary Spastic Paraplegia: A Rare Case of a Family with Phenotypic Variation
Volume: 17
Issue: 3
Author(s): Mor Saban*Tal Shachar
Affiliation:
- Gertner Institute for Epidemiology and Health Policy Research, Ramat-Gan,Israel
Keywords:
Hereditary spastic paraplegia, SPG5, CYP7B1, mutation, phenotype, djerba.
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 literature.
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 interfamilial
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 paraplegia,
together with the establishment of disease biomarkers, will hopefully lead to better
and more personalized treatment.
