| Cerebellar ataxia | Progressive gait and limb ataxia |
| Parkinsonism | Bradykinesia, rigidity, and postural instability |
| Autonomic dysfunction | Urinary incontinence, orthostatic hypotension, syncope, pupillary abnormalities |
| Psychiatric symptoms | Behavioral changes, hallucinations, personality change |
| Episodic encephalopathy | Subacute episodes of confusion, fever, and stroke-like symptoms that may be mistaken for encephalitis or stroke |
| Seizures | Both generalized and focal seizures |
| Peripheral neuropathy | Sensory-motor neuropathy with distal predominance |
| Cerebral and cerebellar atrophy | Progressive cortical and cerebellar volume loss |
| Corpus callosum abnormalities | Thinning and signal changes in the corpus callosum |
| Databases | OMIMOrphanetClinicalTrialsPubMed |
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