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Specialised Investigations

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Various tests that may be unfamiliar to a newcomer to neurology are listed below:

Serum copper & caeruloplasmin Wilson’s disease & rare cord disease
CAG repeat assay Huntington’s (Ch. 8)
Genetic tests Neuropathies and ataxias (Chs 10, 17)
Antiganglioside antibodies Acquired neuropathies (Ch. 10)
Antineuronal antibodies Paraneoplastic syndromes (Chs 17, 21)
Anti‐endomysial & anti‐gliadin antibodies Coeliac disease (Ch. 17)
Anti‐GAD antibodies Stiff person syndrome (Ch. 8)
Anti‐acetylcholine receptor, anti‐MuSK antibodies et al Myasthenic syndromes (Ch. 10)
Striated muscle antibodies, genetic tests Myopathies, dystrophies (Ch. 10)
Aquaporin 4 antibodies Devic’s (Ch. 11)
Voltage‐gated K channel antibodies et al Autoimmune limbic encephalitis (Ch. 9)
Porphyrins, amino‐acids Porphyrias, amino‐acid disorders
Leucodystrophies, various V. long chain fatty acids, enzyme & genetic tests (Ch. 19)
Neurology

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