Table 2 Diagnostic investigations in adults
From: Guidelines on the diagnosis and management of the progressive ataxias
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 |