Neurological diseases
Spastic paraplegias
Hereditary polyneuropathies
Non-ataxic movement disorders
Ataxias and trinucleotide diseases
Muscular atrophies
Metabolic diseases
Oncology
Ophthalmology
For a plethora of metabolic diseases, especially lysosomal storage disorders
like Fabry, Gaucher, Krabbe, MPS, Wolman