Cognitive Disorders in Hereditary Spastic Paraplegia Type 4
- Conditions
- Spastic Paraplegia
- Registration Number
- NCT06260982
- Lead Sponsor
- Central Hospital, Nancy, France
- Brief Summary
Hereditary spastic paraplegia type 4 is the most frequent mutation of hereditary spastic paraplegias. It is commonly described as pure, with progressive weakness of the lower limbs, pyramidal syndrome and vesico-sphincter disorders. However, cognitive disorders have been reported for over 20 years, but remain poorly characterized.
- Detailed Description
Our primary objective is to describe a pattern of cognitive impairment in Hereditary Spastic Paraplegia type 4 using 18-FDG-PET metabolic imaging.
As secondary objectives, we wish to study the presence of correlations between neuropsychological tests, clinical examination, 18-FDG-PET data and general and genetic data of the pathology. We also wish to investigate correlations between genotype and phenotype.
Recruitment & Eligibility
- Status
- RECRUITING
- Sex
- All
- Target Recruitment
- 30
- Patient over 18 years of age, living in the Grand Est region (France)
- Patient with a pathogenic or probably pathogenic variant (class 4 or 5) in the SPAST gene.
- dementia comorbidities or cognitive disorders unrelated to the pathology that may affect neuropsychological tests.
Study & Design
- Study Type
- OBSERVATIONAL
- Study Design
- Not specified
- Primary Outcome Measures
Name Time Method cognitive testing baseline we use detailed neuropsychological tests (MoCA)
- Secondary Outcome Measures
Name Time Method Correlations between neuropsychological tests, clinical examination, PET and general data. baseline Genotype/Phenotype correlations baseline
Trial Locations
- Locations (1)
Centre hospitalier régional universitaire
🇫🇷Nancy, France