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Table 188-2

Etiology of Motor Neuron Disorders

DIAGNOSTIC CATEGORYINVESTIGATION

Structural lesions

 Parasagittal or foramen magnum tumors

 Cervical spondylosis

 Chiari malformation of syrinx

 Spinal cord arteriovenous malformation

MRI scan of head (including foramen magnum and cervical spine)

Infections

 Bacterial-tetanus, Lyme

 Viral-poliomyelitis, herpes zoster

 Retroviral-myelopathy

CSF exam, culture

Lyme titer

Anti-viral antibody

HTLV-1 titers

Intoxications, physical agents

 Toxins-lead, aluminum, others

 Drugs-strychnine, phenytoin

 Electric short, x-irradiation

24-h urine for heavy metals

Serum lead level

Immunologic mechanisms

 Plasma cell dyscrasias

 Autoimmune polyradiculopathy

 Motor neuropathy with conduction block

 Paraneoplastic

 Paracarcinomatous

Complete blood counta

Sedimentation ratea

Total proteina

Anti-GM1 antibodiesa

Anti-Hu antibody

MRI scan, bone marrow biopsy

Metabolic

 Hypoglycemia

 Hyperparathyroidism

 Hyperthyroidism

 Deficiency of folate, vitamin B12, vitamin E

 Malabsorption

 Deficiency of copper, zinc

 Mitochondrial dysfunction

Fasting blood sugara

Routine chemistries including calciuma

PTH

Thyroid functiona

Vitamin B12, vitamin E, folatea

Serum zinc, coppera

24-h stool fat, carotene, prothrombin time

Fasting lactate, pyruvate, ammonia

Consider mtDNA

HyperlipidemiaLipid electrophoresis
Hyperglycinuria

Urine and serum amino acids

CSF amino acids

Hereditary disorders

 C9orf72

 Superoxide dismutase

 TDP43

 FUS/TLS

 Androgen receptor defect (Kennedy's disease)

WBC DNA for mutational analysis

a Should be obtained in all cases.

Abbreviations: CSF, cerebrospinal fluid; FUS/TLS, fused in sarcoma/translocated in liposarcoma; HTLV-1, human T-cell lymphotropic virus; MRI, magnetic resonance imaging; PTH, parathyroid; WBC, white blood cell.