Ataxia - General
Etiologies
Onset
- acute (ischemia or hemorrhage)
- subacute (Whipple, MS, ADEM, Miller-Fisher/Bickerstaff, GAD, Celiac, VGCC, SLE, hashimoto, sarcoid, tumors, paraneoplastic, wernicke, Vit E def, Vit B12 def, Cu def)
- chronic (congenital or hereditary)?
Exposures
- ASMs, chemo, alcohol, heavy metals
- Recent infections
Idiopathic sporadic genetic
- SCA6 or Freidrich
Genetic ataxias
- SCA pure cerebellar dysfunction +/- neuropathy, tremor, cognitive changes, myoclonus, pyramidal signs (autosomal dominant)
- Freidrich's (AR): gait and limb ataxia, OPTIC ATROPHY, dysphagia, UMN weakness, peripheral neuropathy, cardiomyopathy, diabetes. Onset usually before 25y
- Wilsons (AR): ataxia, tremor, choreoathetosis, +/- bradykinesia, depression/paranoia/delusions, liver failure
- FXTAS (X-linked recessive): - usually 50y of age with prominent intention tremor, cognitive decline, parkinsonism, autonomic dysfunction, peripheral neuropathy, and proximal muscle weakness with atrophy of MCP and splenium
- Mitochondrial ataxias - exercise intolerance, ptosis, progressive external ophthalmoplegia, myopathy, muscle cramps and pain, cognitive or neuropsychiatric difficulties, and seizures
- MSA/PSP
Investigation
- Ataxia panel Univ Chicago
- Other Labs:
CBC, CMP, serum protein, lipid panel (AOA1 is associated with low serum albumin and elevated LDL), cholestanol (cerebrotendinous xanthomatosis), Vit B12/folate, Vit E, TSH, TPO/TG, RPR, SPEP, A1c, HIV, thiamine, phytanic acid (Refsum's disease), copper/ceruloplasmin, rheumatologic panel, ESR, CRP, celiac panel, alpha-fetoprotein (AT and AOA2), hexosaminidase, and autoimmune encephalitis panel (including GAD65), celiac studies
Management
Ongoing trials
Troriluzole
- SCA 1,2,3,6,7,8,10
- prodrug riluzole; benefits 1xd, not food effect
- FDA reported bias