Neurologic features | Range of diseases |
Visual or ocular involvement Optic atrophy Retinal degeneration Cataracts Argyll Robertson pupil Kayser-Fleischer rings |
Neurometabolic (MLD, Krabbe, PMD, CTX, HDLAS, mitochondrial disease) Neurometabolic (Krabbe, Cockayne syndrome, mitochondrial disease) Neurometabolic (CTX, mitochondrial disease) Neurosyphillis Wilson disease |
Psychiatric or behavioral symptoms | FTD, DLB, neurometabolic (MLD, ALD, VWM, APBD, HDLAS) |
Myoclonus or early seizures | Prion disease, AD, DLB, DRPLA, neurometabolic (mitochondrial disease, Gaucher disease, Tay-Sachs, ANCL, Lafora body disease, sialidosis), SSPE |
Gaze palsy/ophthalmoplegia | PSP, SCA2, neurometabolic (Gaucher disease, Neimann-Pick type C, mitochondrial disease), Whipple disease, alcohol |
Deafness | Superficial siderosis, mitochondrial disease |
Dysautonomia | DLB, MSA, prion disease, anti-NMDAR encephalitis, AADL |
Pyramidal signs | MS, FTD with MND, AD (PSEN1), SCA, neurometabolic (ALD, VWM, Krabbe, APBD, CTX, HDLAS) |
Tremor | PDD, PSP, MSA, HIV, Wilson disease |
Dystonia/chorea | HD, ANCL, CBD, Wilson disease, neuroacanthocytosis, Lesch-Nyhan, DRPLA, anti-NMDAR encephalitis, variant CJD |
Peripheral neuropathy | HIV, alcohol, neurometabolic (CTX, ALD, MLD, Krabbe, APBD, mitochondrial disease, Fabry disease), SCA2 |
Abnormal gait and station | NPH, PDD, PSP, vascular dementia, neurosyphillis, Tay-Sachs |
Ataxia | SCA, paraneoplastic encephalopathy, prion disease, DPRLA, fragile X, MSA, MS, neurometabolic (CTX, Alexander disease, APBD, VWM, mitochondrial disease, ANCL) |
Migraine and stroke | CADASIL |
Sleep disturbance | Neurodegenerative dementias, prion disease |
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