Test | Tier 1 (all patients, unless specified) | Tier 2 | Tier 3 |
Imaging and ancillary testing | - MRI of the brain with contrast
- NCS/EMG (if neuropathy)
- MRI C/T spine (if spasticity)
- EEG (if seizures)
- Autonomic testing (if autonomic signs)
| - If positive cerebellar autoantibodies:
- CT chest/abdomen/pelvis
- PET
| - As guided by positive tier 3 metabolic laboratories, for example:
- Muscle biopsy
- Magnetic resonance spectroscopy
- Skin biopsy
|
Laboratories | Toxic, metabolic, and genetic | - Electrolytes
- Renal function
- Liver function
| - Alpha-fetoprotein
- Ammonia
- Ceruloplasmin
- Creatine kinase
- Fasting lipids
- Ketones
- Urine heavy metals
- Lactate, pyruvate
| - Lysosomal enzymes
- Plasma amino acids
- Urine organic acids
- Cholestenol
- Phytanic acid
- Very long chain fatty acids
|
Inflammatory and autoimmune | - GAD65
- ANA
- Antigliadin antibody
- Anti-TPO, antithyroglobulin
- SSA/SSB (Ro/La)
- Cerebellar autoantibodies (Yo, Hu, Ri, Tr, Zic4, mGluR1, VGCC, Ma1, CRP-5, PCA-2, VGKC, Caspr2)
| - If positive celiac antibodies:
- Anti-endomysial antibody
- Anti-TTG antibody
| |
Nutritional and endocrine | - Vitamin E
- Copper
- HbA1c
- TSH
- B12/methylmalonic acid/homocysteine (if sensory signs)
| | |
Neoplastic | | | |
Infectious | | | |
Genetic testing | - If positive family history
| - If negative tier 1 testing and chronic ataxia
| |
Lumbar puncture | | - If positive autoantibody, neoplasm, infection testing, or subacute/acute onset without vascular/structural cause*
| |