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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.
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| Name | Type | Description | Arm Group Labels | Other Names |
|---|---|---|---|---|
| 18-FDG-PET | Radiation | 18-FDG-PET and neuropsychological tests (language, memory, visuo-spatial tests, etc.). |
|
| Measure | Description | Time Frame |
|---|---|---|
| cognitive testing | we use detailed neuropsychological tests (MoCA) | baseline |
| Measure | Description | Time Frame |
|---|---|---|
| Correlations between neuropsychological tests, clinical examination, PET and general data. | baseline | |
| Genotype/Phenotype correlations | baseline |
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Inclusion Criteria:
Exclusion Criteria:
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Patients followed in the Grand Est region for type 4 spastic paraplegia with identification of a pathogenic or probably pathogenic variant in the SPAST gene.
| Name | Role | Phone | Extension | |
|---|---|---|---|---|
| Mathilde Renaud | Contact | +333 83 85 17 80 | m.renaud2@chru-nancy.fr |
| Name | Affiliation | Role |
|---|---|---|
| Mathilde Renaud | Central Hospital Nancy | Principal Investigator |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Centre hospitalier régional universitaire | Recruiting | Nancy | 54000 | France |
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| ID | Term |
|---|---|
| D010264 | Paraplegia |
| D060825 | Cognitive Dysfunction |
| ID | Term |
|---|---|
| D010243 | Paralysis |
| D009461 | Neurologic Manifestations |
| D009422 | Nervous System Diseases |
| D012816 | Signs and Symptoms |
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| ID | Term |
|---|---|
| D009483 | Neuropsychological Tests |
| ID | Term |
|---|---|
| D011581 | Psychological Tests |
| D004191 | Behavioral Disciplines and Activities |
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| D013568 |
| Pathological Conditions, Signs and Symptoms |
| D003072 | Cognition Disorders |
| D019965 | Neurocognitive Disorders |
| D001523 | Mental Disorders |