THE NEUROGENETICS LABORATORY
This laboratory facilitates the diagnosis of rare genetic diseases impacting the central nervous system and skeletal muscle functions.
- Protein 14-3-3 in cerebrospinal fluid to detect Creutzfeldt-Jacob disease
- TAU protein in cerebrospinal fluid to detect Alzheimer`s disease
- The defective prion protein in urine to detect Creutzfeldt-Jacob disease
- Mutation in the TAU protein (P301S) to detect Parkinson’s-related dementia
- Glycogen branching enzyme mutation (Y329S) to detect glycogen storage disease
- Aldehyde dehydrogenas enzymemutation (C682T) to detect Svegren-Larsen disease
- Transseritin protein mutation (Y77S) to detect ameloid disease
- Prion protein mutation (P102L) to detect Gerstmann`s Syndrome
- Prion protein mutations (E200K, D178N) to detect familial Creutzfeldt-Jacob disease
- isperlin protein mutation to detect muscular atrophy disease (Limb-Girdal)
- CD45 protein mutation to detect hereditary multiple sclerosis.