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GM1, GM2 gangliosidosis | Urine oligosaccharides; Mutations in the beta-galactosidase HEX-A and HEX-B gene, enzymatic function test |
Glutaric acidemia | DDP1 gene |
Huntington s disease | C2orf37 gene |
Huntington s disease look-alike disorders (e.g. Prion disease, SCA17) | PRNP gene, JPH3 gene, TBP gene |
CJD |
See also: Progressive dystonia with normal brain MRI or generalised atrophy