Cognitive Disorders in Hereditary Spastic Paraplegia Type 4

Study Results

Results pending

The study team has not published outcome measurements, participant flow, or safety data for this trial yet. Check back later for updates.

Basic Information

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Recruitment Status

RECRUITING

Total Enrollment

30 participants

Study Classification

OBSERVATIONAL

Study Start Date

2022-01-01

Study Completion Date

2025-01-02

Brief Summary

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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.

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Detailed Description

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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.

Conditions

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Spastic Paraplegia

Study Design

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Observational Model Type

COHORT

Study Time Perspective

PROSPECTIVE

Interventions

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18-FDG-PET

18-FDG-PET and neuropsychological tests (language, memory, visuo-spatial tests, etc.).

Intervention Type RADIATION

Other Intervention Names

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neuropsychological testing

Eligibility Criteria

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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.