The preSPG4 Study - Studying the Prodromal and Early Phase of SPG4

Studying the Prodromal and Early Phase of Hereditary Spastic Paraplegia Type 4 (SPG4)

Study goals

1. 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
2. Biomarkers providing objective measures of disease activity

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