Ataxia evaluation:

1.     MRI brain

2.     EEG

3.     Evoked potentials

4.     ENT evaluation: electronystagmogram

5.     EDX

6.     CXR

7.     Labs: (three levels)

a.     CBC, Chem 20, HbA1c, ESR, ANA, RPR, TSH, Vitamin E, Folic acid, Vitamin B12, methylmalonic acid, homocysteine, urine for heavy metals.

b.     CPK, SPEP, Post-prandial lactate / pyruvate / ammonia, ketones, copper, ceruloplasmin, zinc, ACE, Lyme titers, HTLV I and II, HIV, anti-thyroid antibodies, anti-gliadin antibodies (and anti-endomysial / anti-transglutaminase antibodies), anti-GAD antibodies, antiamphiphysin antibodies

c.      VLCFA, phytanic acid, plasma or urine amino acids, urine organic acids, lysosomal hydrolase screen including hexosaminidase A, coenzyme Q10 levels, glutathione gene analysis

8.     Spinal fluid studies:

a.     Cell count, glucose, lactate, protein, VDRL, gram stain, cultures, cryptococcal antigen, 14-3-3 protein, neuron specific enolase, prion protein studies, neurotransmiiter levels, myelin basic protein, oligoclonal bands, IgG synthesis, PCR

9.     Consider:
a.     MR spectroscopy
b.     PET scan / dopa PET scan

10. Biopsies – conjunctival, muscle / nerve, GI tract, bone marrow, brain

11.  Paraneoplastic evaluation: appropriate imaging (US, CT, MRI), alphafetoprotein, paraneoplastic antibodies (Yo, Hu, Ri, CV2, MaTa, Zic4, others)

12.  Genetic evaluation: SCA, Friedreichs ataxia, fragile X-associated tremor / ataxia syndrome (FXTAS).  Inborn errors of metabolism.