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.
Phenotypic Variation of Birt-Hogg-Dubé Syndrome Within a Single Family
