Cerebellar ataxia work-up

Screening tests

Serum glucose, electrolytes, calcium/phosphorus, magnesium, liver, renal and thyroid function tests, pyruvate and lactate (mitochondrial disorders)

Vitamin B1, B12, E and folate

Drug (antiepileptic drugs, cyclosporin etc.) & toxic (alcohol, mercury, solvents) screening

CK (neuroacanthocytosis, mitochondrial disorders)

Cholesterol, triglycerides and lipoprotein profile (FAVED)

CBC, ESR, fresh blood smear for acanthocytosis (neuroacanthocytosis)

CSF pyruvate and lactate (mitochondrial disorders)

EEG (prion disease), EMG (tremor analysis), NCVs (Miller-Fisher syndrome, SCAs, FA)

Brain MRI scan

Specific tests

Blood/serum

NH₃, carnitine (FAODs)

Serum ceruloplasmin and copper, 24h urinary copper, slit lamp, liver biopsy (WD)

Immunoelectrophoresis

Serum cholestanol (cerebrotendinous xanthomatosis), phytanic acid (Refsum disease), saturated VLCFA (X-AMN)

Antibodies: ANA, antigliadin and antiendomysial (celiac disease), antiamphiphysin (breast and small cell lung cancer), anti-Hu (limbic encephalomyelitis), anti-Yo (Purkinje cell), anti-Ri (opsoclonus-myoclonus), antimGluR1 (Hodgkin lymphoma) 

14-3-3 protein (CJD) (stable at room temperature and can be sent by regular mail)  

Plasma and urinary screen for amino acids. Urine mevalonic acid (abetalipoproteinemia), blood citrulline (NARP)

Serology: HIV, HZV, EBV, B. burgerdorfii, RPR and TPHA, mycoplasma, legionella

Erythrocyte transketolase activity (Wernicke encephalopathy), leucocyte activity (lysosomal galactocerebrosidase (KLD), α-N-neuraminidase (sialidosis), arylsulphatase A (MLD), β-glucosidase (Gaucher disease))

Urine myoglobine, dolichol (Kufs disease), sialyloligosaccharides (sialidosis)

CSF

Amino acids, L-2 hydroxyglutaric acid

Anti-GQ1b (≥1/40)

PCR for HZV, EBV, Tropheryma whippelii

Serum and leucocyte total hexosaminidase (GM₂ gangliosidosis)

Ophthalmology

Kayser-Fleischer ring

Imaging

Brain MRA

Neurophysiology

ECG, echocardiography (FA)

SSEP, VEP, ERG (abetalipoproteinemia) and EOG

Cell cultures

Skin fibroblasts (phytanic acid oxydase in Refsum disease, cholesterol esterification in NPC)

Biopsy

Skin biopsy (Lafora-body disease, Kufs disease)

Muscle biopsy (mitochondrial disorders, Kufs disease, Lafora body disease)

Liver biopsy (OTCD, Kufs disease, Lafora body disease)

Small bowel biopsy (celiac disease, Whipple disease)

Sural nerve biopsy (abetalipoproteinemia, MLD)

Bone marrow biopsy (sea blue histiocytes in HSD)

Genetic testing

Trinucleotide repeats for SCA 1,2,3,6,7,10,12, DRPLA, Friedrich ataxia (frataxin) and HSP (spastin)

Dodecapeptide repeats (Unverricht-Lundborg disease) 

Mitochondrial mutation analysis

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