Akinetic-rigid syndrome work-up

Screening tests

Serum electrolytes, calcium/phosphorus, magnesium, uric acid, liver and thyroid function tests

CK (neuroacanthocytosis)

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

CBC, ESR, fresh blood smear for acanthocytosis (neuroacanthocytosis)

RPR, TPHA

EEG, EMG (tremor analysis), NCVs, ERG

Brain MRI scan (HD, HSD)

Specific investigations

Blood/serum

ANA, ACE, antiphospholipid antibodies

Immunoglobulins, CEA, alpha-foetoprotein (ataxia teleangectasia)

14-3-3 protein (CJD) (stable at room temperature and can be sent by regular mail)

CSF

Lactate (mitochondrial disorders)

Neurophysiology

Autonomic function tests

ERG, EOG

Leucocyte b-galactosidase (GM₁ gangliosidosis)

Genetic testing

Trinucleotide repeats for HD, FA, DRPLA, SCA 1,2,3,6,7,10,12

Parkin, a-synuclein gene abnormalities

Mitochondrial mutation analysis

Back to Top