Motor neuron disease work-up

Screening tests

Serum glucose, electrolytes, calcium/phosphorus, magnesium, liver and renal function tests

Serum CK, protein electrophoresis, cholesterol, HbA₁c

Serum B12 and RBC folate, serum PTH and thyroid function tests

ANA, ENA, ACE

CBC, ESR

EMG, NCVs

HIV-1, VDRL,

MRI/CT brain and MRI cervical cord, spinal cord in toto

Ophthalmologic examination

Spirometry (FVC)

Specific investigations

Serum IgM (West Nile fever), throat cultures (diphtheria)

Serum lead, mercury levels

Plasma homocysteine and methionine levels

Ach receptor antibodies, anti-GM1 antibodies

Serum and leukocyte total hexosaminidase and hexosaminidase A

Serum cholestanol levels, VLCFA

Lyme serology, HTLV-1

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

MTHFR activity in lymphocytes, leukocytes or cultured fibroblasts

CT abdomen, thorax

Genetic testing and biopsy

Muscle biopsy (inclusion body myositis), sural nerve biopsy (polyglucosan), bone marrow biopsy, skin biopsy from axillary dermal sweat glands and rectal biopsy.

Genetic testing for DRPLA, SCA 7,8, HEXA gene, spastin gene, SBMA gene, GBE gene, alsin gene (PLS), SOD-1 gene.

Back to Top