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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
  1. 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