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Disease Categories > Neurologic Disease

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Neuropathic Disease

Autoimmune neuropathies can be acute or chronic and involve axonal degeneration or demyelination.

Autoimmune neuropathy classification

Monoclonal gammopathies
Polyclonal inflammatory polyneuropathies
Guillain-Barré syndrome (GBS)
Chronic inflammatory demyelinating polyneuropathy (CIDP)
Multifocal motor neuropathy (MMN)
Paraneoplastic neuropathy

Pathophysiology

In these diseases, a significant overlap of the involved auto-antigens that mediate the pathogenic mechanism can occur
High titers of serum antibodies to neural antigens occur in several neuropathies
Multiple antibodies are associated with these diseases
These autoantibodies are thought to interfere with the process of myelination, myelin maintenance or axon-Schwann cell interaction
The most frequently associated infectious pathogens are Campylobacter jejuni, Cytomegalovirus and Mycoplasma pneumoniae

Neuronal Markers (paraneoplastic markers)

Frequently precede diagnosis of cancer

Neuronal Markers
Neuronal marker*	Associated Clinical Syndrome(s)
GM1	Motor neuropathy: Guillain-Barré syndrome (GBS), multiple sclerosis (MS)
GM2	Motor neuropathy: GBS variants, MS Demyelinating sensory neuropathy
GD1a	Motor neuropathy: GBS-like syndrome (motor & axonal) Demyelinating motor neuropathy (with IgM M-protein) Demyelinating sensory-motor neuropathy
GD1b	Sensory-motor neuropathy (ataxic), cranial nerve
GQ1b	Sensory-motor neuropathy (ataxic), brainstem or cranial nerve Miller-Fisher syndrome (MFS), Ophthalmoplegia
MAG & SGPG	Chronic demyelinating sensory-motor polyneuropathy: Both MAG and SGPG Axonal sensory-motor neuropathy: SGPG only Multifocal motor neuropathy with conduction block: SGPG only
Sulfatide	Sensory neuropathy (axonal, demyelinating) Gait disorder, autoantibody, late-age onset, polyneuropathy (GALOP)
Hu (ANNA-1)	Paraneoplastic neurological disorders Sensory neuropathy associated with small cell lung carcinoma Paraneoplastic encephalomyelitis (PE), cerebellar disorders, GI dysfunction
Ri (ANNA-2)	Paraneoplastic neurological disorders Sensory neuropathy associated with neuroblastoma (children) and fallopian or breast cancer (adults) Paraneoplastic opsoclonus myoclonus ataxia (POMA)
Yo (PCA-1)	Paraneoplastic neurological disorders Sensory neuropathy associated with ovarian and breast carcinomas Paraneoplastic cerebellar degeneration (PCD)
Amphiphysin	Paraneoplastic neurological disorders Sensory neuropathy associated with breast carcinomas, Stiffman syndrome
*These markers, in the presence of appropriate clinical symptoms, may suggest a diagnosis. They may be helpful when used in conjunction with a clinician's diagnostic impression.

Clinical Presentation

Most common presentation is Guillain-Barré Syndrome
Guillain-Barré Syndrome
- Guillain-Barré syndrome is an immune-mediated peripheral neuropathy characterized by acute limb paralysis, weakness (ascending and often asymmetric), numbness and other motor disturbances. It often occurs after a bacterial or viral infection
- Epidemiology
  - Incidence – 0.6-4 cases/100,000 worldwide
  - Gender – M:F 1.5:1
  - Age – peak age is 20-30
- Subtypes
  - Acute inflammatory demyelinating polyneuropathy (AIDP), acute motor axonal neuropathy (AMAN), acute motor and sensory neuropathy (AMSAN) and Fisher syndrome
    - AMAN and AMSAN are associated with the ganglioside antibodies (GM1, GM1b, GD1a)
    - Fisher variant of Guillain-Barré syndrome is characterized by extraocular muscle paralysis, ataxia, hyporeflexia and ophthalmoplegia (GQ1B antibodies)
  - Other GBS variants
  - Bickerstaff encephalitis is usually a post-viral inflammatory illness with progressive ophthalmoplegia, ataxia and disturbance of consciousness (or hyperreflexia)
    - May overlap with Miller-Fisher and Guillain-Barré syndrome
  - Chronic form of Guillain-Barré inflammatory demyelinating polyneuropathy
    - Shares features with GBS, but has a much poorer prognosis for full recovery
  - Paraneoplastic polyneuropathies
    - Associated with malignancies

Diagnosis

Appropriate clinical presentation
Diagnosis based on use of Asbury criteria
Order neuronal markers based on clinical presentation

Differential Diagnosis

Viral illness – polio, rabies
Acute transverse myelitis
Diabetic neuropathy
Bacterial illness – diphtheria
Toxin ingestion
Acute intermittent porphyria
Malignancy

Indications for Ordering

Tests generally appear in the order most useful for common clinical situations
Click on number for test-specific information in the ARUP Laboratory Test Directory

Test Name and Number	Recommended Use	Limitations	Follow Up
Myelin Associated Glycoprotein (MAG) Antibody, IgM 0051285 Method: Enzyme-Linked Immunosorbent Assay	Aid in the diagnosis of neuropathy involving nerve demyelination Aid in evaluating patient for neurological disorders such as lower motor neuron syndrome, amyotrophic lateral sclerosis, multiple sclerosis, other multifocal neuropathies and systemic lupus erythematosus (SLE) with central nervous system involvement Aid in monitoring changes in antibody levels before, during and after treatment
Ganglioside (asialo-GM1, GM1, GM2, GD1a, GD1b, & GQ1b) Antibody, IgG/IgM 0051033 Method: Enzyme-Linked Immunosorbent Assay	Use as a general screen for patients with neuropathy Aid in monitoring changes in antibody levels before, during and after treatment Aid in evaluating patient for neurological disorders such as lower motor neuron syndrome, amyotrophic lateral sclerosis, multiple sclerosis, other multifocal neuropathies and systemic lupus erythematosus (SLE) with central nervous system involvement
GM1 Antibody Panel 0050591 Method: Enzyme-Linked Immunosorbent Assay	Use as a general screen for patients with neuropathy Aid in monitoring changes in antibody levels before, during and after treatment Aid in evaluating patient for neurological disorders such as lower motor neuron syndrome, amyotrophic lateral sclerosis, multiple sclerosis, other multifocal neuropathies and systemic lupus erythematosus (SLE) with central nervous system involvement
Motor & Sensory Neuropathy Evaluation with Immunofixation Electrophoresis & Reflex to ANNA Titer & ANNA Immunoblot 0051223 Method: Refer to individual components	Use as a general screen for neuropathy
Motor & Sensory Neuropathy Evaluation with Reflex to ANNA Titer & ANNA Immunoblot 0051224 Method: Refer to individual components	Use as a general screen for neuropathy
Sulfate-3-Glucuronyl Paragloboside (SGPG) Antibody, IgM 0051284 Method: Enzyme-Linked Immunosorbent Assay	Use as a general screen for patients with neuropathy Aid in monitoring changes in antibody levels before, during, and after treatment May be helpful to the clinician in conjunction with other tests and clinical symptoms for evaluating treatment in patients with certain neurological disorders such as lower motor neuron syndrome, amyotrophic lateral sclerosis, multiple sclerosis, other multifocal neuropathies and systemic lupus erythematosus (SLE) with central nervous system involvement	The majority of SGPG IgM positive sera will show reactivity against MAG Patients that are SGPG positive and MAG IgM negative may have multi-focal motor neuropathy with conduction block	The majority of SGPG IgM positive sera will show reactivity against MAG Patients that are SGPG positive and MAG IgM negative may have multi-focal motor neuropathy with conduction block

Additional Tests Available

Click on number for test-specific information in the ARUP Laboratory Test Directory

Test Name and Number	Comments
Motor Neuropathy Panel 0051225 Method: Refer to individual components
Sensory Neuropathy Antibody Panel with Reflex to PCCA Titer, ANNA Titer & Neuronal Immunoblot 0051222 Method: Refer to individual components