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.
Age >= 18 years
Subjects with ultra-rare inherited degenerative and metabolic neurological diseases
Subjects with undiagnosed neurological diseases (when supposed to be inherited)
none
Adults with ultra-rare inherited degenerative and metabolic neurological diseases Adults with undiagnosed neurological diseases (when supposed to be inherited)
Other
Other
collection of data
Other interventioncollection of retrospective and prospective data from adult patients with ultra-rare inherited neurological diseases
Verbal (letter) fluency
Repeated Montreal Cognitive Assessment (MoCA) letter F fluency subtest
Stance and gait performances [Time Frame: 10 years] Stance and gait performances
Repeated SARA (Scale for the Assessment and Rating Ataxia) stance subtask, ambulation index (AI) and Timed Up and Go (TUG) test
Upper limb motor function
Repeated ONLS (Overall Neuropathy Limitation Scale) arm scale
Swallowing function (dysphagia)
Repeated NP-C mDRS (Niemann-Pick type C modified disability rating scale) swallowing scale
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