Spastic Paraplegia
Conditions
Keywords
Hereditary Spastic Paraplegia type 4, 18-FDG-PET, cognitive disorders
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.
Interventions
RADIATION18-FDG-PET
18-FDG-PET and neuropsychological tests (language, memory, visuo-spatial tests, etc.).
Sponsors
Central Hospital, Nancy, France
Study design
Observational model
COHORT
Time perspective
PROSPECTIVE
Eligibility
Sex/Gender
ALL
Healthy volunteers
No
Inclusion criteria
* 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.
Exclusion criteria
* dementia comorbidities or cognitive disorders unrelated to the pathology that may affect neuropsychological tests.
Design outcomes
Primary
| Measure | Time frame | Description |
|---|---|---|
| cognitive testing | baseline | we use detailed neuropsychological tests (MoCA) |
Secondary
| Measure | Time frame |
|---|---|
| Correlations between neuropsychological tests, clinical examination, PET and general data. | baseline |
| Genotype/Phenotype correlations | baseline |
Countries
France
Contacts
Primary ContactMathilde Renaud
Outcome results
None listed