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.
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.
Study Type
OBSERVATIONAL
Enrollment
30
18-FDG-PET and neuropsychological tests (language, memory, visuo-spatial tests, etc.).
Centre hospitalier régional universitaire
Nancy, France
RECRUITINGcognitive testing
we use detailed neuropsychological tests (MoCA)
Time frame: baseline
Correlations between neuropsychological tests, clinical examination, PET and general data.
Time frame: baseline
Genotype/Phenotype correlations
Time frame: baseline
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