General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal collection of clinical, laboratory and instrumental data.
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Verbal (letter) fluency
Timeframe: 10 years
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Timeframe: 10 years
Upper limb motor function
Timeframe: 10 years
Swallowing function (dysphagia)
Timeframe: 10 years
Speech function (dysarthria)
Timeframe: 10 years
Bladder function
Timeframe: 10 years
Sleep
Timeframe: 10 years
Quality of life
Timeframe: 10 years