Table 2.
Metabolic Disorders | Metal and Mineral | Wilson’s disease, Neurodegeneration with brain iron accumulation 1, Neuroferritinopathy, Idiopathic basal ganglia calcification (Fahr disease) |
Lysosomal Storage Disorders | Niemann Pick C, GM1 and GM2 gangliosidosis, metachromatic leukodystrophy, Krabbe disease, Pelizaeus-Merzbacher disease, fucosidosis, neuronal ceroid lipofuscinosis, | |
In-born errors of metabolism | Lesch-Nyhan syndrome, Triosephosphate Isomerase deficiency, Aromatic amino acid decarboxylase deficiency Glucose transport defects | |
Amino and organic acidurias | Glutaric aciduria type I, Homocystinuria, proprionic aciduria, Methylmalonic aciduria, 4-hydroxybutyric aciduria, 2-oxoglutaric aciduria, Hartnup disease isolvaleric acidemia | |
Mitochondrial Disorders | Leigh’s Syndrome Leber’s Hereditary Optic Neuropathy Human deafness-dystonia syndrome (Mohr-Tranebjaerg syndrome) |
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Parkinsonian Disorders | Parkinson’s disease, Progressive supranuclear palsy Corticobasal degeneration Juvenile-onset parkinsonism X-linked dystonia-parkinsonism Rapid-onset dystonia-parkinsonism |
|
Triple Repeat Disorders | Huntington’s disease Spinocerebellar ataxia |
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Other | Ataxia telangectasia, Chorea-acanthocytosis, Rett syndrome, Infantile bilateral striatal necrosis, neuronal intranuclear disease Ataxia with vitamin E deficiency, Progressive pallidal degeneration, Sjogren-Larsson syndrome, Ataxia-Amyotrophy-Mental-retardation-Dystonia syndrome |