Article
Hereditary spastic paraplegia: new insights into clinical variability and spasticity-ataxia phenotype, and novel mutations.
Acta neurologica Belgica - 1 Dec 2022
Sahin Ibrahim, Saat Hanife
Abstract excerpt
INTRODUCTION: Hereditary spastic paraplegias (HSPs), a genetically heterogeneous group of neurodegenerative diseases, have an incidence of around 3 to 9 individuals every 100,000. Due to the broad clinical and genetic variability of HSPs, it is challenging to diagnose the disorder quickly and precisely. Hereditary spastic ataxias (HSAs) and HSPs are overlapping diseases, and their intersection has been gradually...
Topics
- Humans
- Spastic Paraplegia, Hereditary
- Muscle Spasticity
- Phenotype
- Mutation
- Ataxia