Overview
Study goals
- Prospective longitudinal data on progression in the natural course of SPG4 in presymptomatic mutation carriers prior to clinical disease onset and in early stages of disease
- Biomarkers providing objective measures of disease activity
Eligibility
Inclusion Criteria:
- First degree relatives (parents, offspring, and sibs) of SPG4 patients or symptomatic individuals with known SPAST mutation
- Age 18 to 70 years
- Written, informed consent (patient)
Exclusion Criteria:
- No known SPAST-mutation within the family
- Manifest spastic gait (subclinical signs like increased deep tendon reflexes, positive Babinski sign are allowed)
- Participation in interventional trials