Table 2.

Diagnostic investigations in adults

Primary care	U&Es Creatinine FBC ESR/CRP	Liver enzymes γ-GT TFT Vitamin B12	Folate Glucose CXR
Secondary care (first line)	αFP Blood film Caeruloplasmin/copper Coeliac screen Creatine kinase Genetic tests for FRDA, SCA 1, 2, 3, 6, 7 (12, 17) and FXTAS	Lactate Lipid-adjusted vitamin E and lipoproteins Lumbar puncture (cells, protein, glucose, cytology, oligoclonal bands, lactate, ferritin) MRI brain and cervical spine	Anti-Hu/Yo and other paraneoplastic antibodies Anti-GAD Anti-VGCC CT (chest, abdomen, pelvis) 14–3-3 and other proteins in CSF (prion diseases)
Secondary care (second line)	Cholestanol Plasma oxysterols Bile acids Coenzyme Q10(ubiquinone) Electroencephalography Very long chain fatty acids	Muscle biopsy Ophthalmology/OCT Peripheral nerve conduction studies Phytanic acid	Remaining genetic tests (NGS) Total body PET scan White cell enzymes

U&Es Urea and Electrolytes, FBC Full Blood Count, ESR Erythrocyte Sedimentation Rate, CRP C-Reactive Protein, γ-GT gamma-Glutamyltransferase, TFT Thyroid Function Test, CXR Chest X-ray, αFP alpha-Fetoprotein, GAD Glutamic Acid Decarboxylase, VGCC Voltage-gated Calcium Channel, CT Computerised Tomography, FRDA Friedreich’s Ataxia, SCA Spinocerebellar Ataxia, FXTAS Fragile X Tremor-Ataxia Syndrome, CSF Cerebrospinal Fluid, OCT Optical coherence tomography, NGS Next Generation Sequencing, PET Positron Emission Tomography