Multiple sclerosis-like syndrome work-up
Screening tests
Serum
glucose, electrolytes, calcium/phosphorus, uric acid, lactate and pyruvate, liver,
renal and thyroid
function tests
Serum CK
ANA, ENA, ANCA, RF, complement, SSA- and SSB autoantibodies, ACE
CBC, ESR,
Serum vitamin B12 and folic acid
RPR,
TPHA
Serology: HIV, HSV, adenovirus, CMV, Coxsackie, polio, echovirus, hepatitis (A,B,C), parvovirus B19, brucella, C. jejuni, Lyme, legionella, chlamydia, mycoplasma, toxoplasma, VDRL, cysticercosis
Chest X-ray
PPD
Echocardiogram
EEG (non-convulsive status epilepticus), VEP, SEP, BAEP, EMG/NCVs
Brain MRI w/o and w/ gadolinium, MRA
CSF
Besides routine analysis (chemistry, cell count, smear and stainings): lactate and pyruvate (mitochondrial disease), oligoclonal bands, IgG index, VDRL, viral (measles titer), fungal, PCR (TB, T. Whippleii, JC virus, HSV, HHV6, EBV, CMV, VZV), Ziehl staining, repeated cytology,
anti-thyroglobulin and anti-thyroperoxidase antibodies (Hashimoto disease).
Specific investigations
Blood/serum
Blood (and urine) organic acids and carnitine
Anti-thyroglobulin and anti-thyroperoxidase antibodies (Hashimoto disease), immunoglobulin electrophoresis
Coagulation profile (protein C and S, ATIII, Factor Leiden V, APL antibodies, anticardiolipin antibodies)
Anti-Hu, anti-Yo antibodies
Methylmalonic acid, VLCFA, arylsulphatase, homocysteine
Miscellaneous
Conventional angiogram (CNS vasculitis)
Genetic testing
Trinucleotide repeats for SCA 1,2,3,6,7,10,12, DRPLA, Friedrich ataxia (frataxin) and HSP (spastin)
Mitochondrial
mutation analysis
Biopsy
Conjunctiva (sarcoidosis),
Small bowel (Whipple disease)
Skin (SLE, vasculitis, CADASIL)
Brain biopsy