Table 3.
Clinicoradiological clues for specific etiology
| Clinicoradiological clue | Disease |
|---|---|
| Optic atrophy | Leigh syndrome |
| Methylmalonic aciduria | |
| Friedreich’s ataxia | |
| PLA2G6 associated neurodegeneration | |
| Pantothenate kinase associated neurodegeneration | |
| Mitochondrial membrane protein–associated neurodegeneration | |
| Cataract | Wilson’s disease |
| Cerebrotendinous xanthomatosis | |
| Oculogyric crisis | Tyrosine hydroxylase deficiency |
| Sepiapterin reductase deficiency | |
| 6-pyruvolyltetrahydropterin synthase deficiency | |
| Aromatic L-amino acid decarboxylase deficiency | |
| Drug induced | |
| Deafness | Leigh syndrome |
| Dystonia-deafness syndrome | |
| Woodhouse-Sakati Syndrome | |
| Cerebrotendinous xanthomatosis | |
| Self-injurious behavior[95] | Lesch-Nyhan syndrome |
| Pantothenate kinase associated neurodegeneration Chorea-acanthocytosis | |
| Wilson’s disease | |
| 6-pyruvolyltetrahydropterin synthase deficiency | |
| Anti-NMDA encephalitis | |
| Ataxia | Friedreich’s ataxia |
| Ataxia telangiectasia | |
| Cerebrotendinous xanthomatosis | |
| Niemann-Pick type-C | |
| Aceruloplasminemia | |
| PLA2G6 associated neurodegeneration | |
| Pantothenate kinase associated neurodegeneration | |
| Wilson’s disease | |
| Spinocerebellar ataxias | |
| Peripheral neuropathy | Spinocerebellar ataxias – SCA 2, 3 |
| Friedreich’s ataxia | |
| Niemann-Pick type-C | |
| Cerebrotendinous xanthomatosis | |
| GM2 gangliosidosis | |
| PLA2G6 associated neurodegeneration | |
| Mitochondrial membrane protein–associated neurodegeneration | |
| COASY protein–associated neurodegeneration | |
| Hypogonadism | Woodhouse Sakati syndrome |
| Ataxia telangiectasia | |
| Hepatic involvement | Wilson’s disease |
| Aceruloplasminemia | |
| Ataxia telangiectasia | |
| Niemann-Pick type-C | |
| Gaucher disease | |
| GM1 gangliosidosis | |
| McLeod syndrome | |
| Acquired hepatocerebral degeneration | |
| Coeliac disease | |
| Renal dysfunction | Leigh syndrome |
| Methylmalonic aciduria | |
| Lesch Nyhan syndrome | |
| Wilson’s disease | |
| Glutaric aciduria type 1 | |
| Systemic lupus erythematosus | |
| Brain iron accumulation on MRI | Pantothenate kinase associated neurodegeneration |
| PLA2G6 associated neurodegeneration | |
| Aceruloplasminemia | |
| Neuroferritinopathy | |
| Woodhouse Sakati syndrome | |
| COASY protein–associated neurodegeneration | |
| GM1 gangliosidosis | |
| T2 hyperintensities in Globus pallidus on MRI | Wilson’s disease |
| Methylmalonic aciduria | |
| Leigh syndrome | |
| Extrapontine myelinolysis | |
| Japanese encephalitis | |
| Kernicterus | |
| Behcet syndrome | |
| Acquired hepatocerebral degeneration | |
| Carbon monoxide poisoning |