Choreoathetosis, ballismus work-up

Screening tests

Serum glucose, electrolytes, calcium/phosphorus, magnesium, uric acid, NH₃, lactate, liver and thyroid function tests, lipoprotein, cholesterol, triglycerides and vitamin E and B12

CK (neuroacanthocytosis)

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

CBC, fresh blood smear, ESR, Red cell Kell Ag testing (McLeod phenotype)

RPR, TPHA, HIV

Brain MRI scan

Specific investigations

Blood/serum

ANA, APLA, anticardiolipin, lupus anticoagulant, immunoelectrophoresis

Urinary mercury, lead

CSF

Lactate (mitochondrial disorders), 5-HIAA, HVA and 3-O-methyldopa, 14-3-3 protein.

Neurophysiology

NCVs

Echocardiography

Genetic testing

Karyotyping (Fragile X syndrome)

Trinucleotide repeats for HD, DRPLA

Parkin, a-synuclein gene abnormalities

Mitochondrial mutation analysis

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