LEADING THE WAY IN AUTOANTIBODY EVALUATIONS
AUTOIMMUNE NEUROLOGICAL DISORDERS
LEADING THE WAY IN AUTOANTIBODY EVALUATIONS
N E U RO L O GY AT M AYO C L I N I C
A RAPIDLY EVOLVING SUBSPECIALTY
Muscle fatigue that immobilizes a young mom in the prime of her life. Seizures
that strike a child without warning. A 45-year-old man¡¯s puzzling forgetfulness.
Today, patients who present these symptoms can receive appropriate diagnoses
¡ª multiple sclerosis (MS), epilepsy and early-onset dementia, respectively ¡ª
and embark on standard treatment protocols to improve quality of life.
But in cases triggered by the body¡¯s autoimmune response, modern medicine
falls short of attacking these diseases at their root causes, offering only
temporary relief rather than cures.
Autoimmune neurology is a rapidly evolving subspecialty driven by the discovery
that the immune system can target virtually any structure within the central or
peripheral nervous system. These conditions manifest as disorders previously
thought to be independent and unrelated.
For the spectrum of autoimmune neurological disorders, where an early and
accurate diagnosis is paramount, our testing approaches to effectively diagnose
and guide treatment for these patients is unparalleled.
A HISTORY OF INNOVATION
& DISCOVERY
Recognized as a world leader in the diagnosis and
treatment of autoimmune neurologic disorders and
demyelinating disease, Mayo Clinic mounts unmatched
resources for uncovering novel syndromes, developing
new diagnostic biomarkers and unique laboratory tests.
The Mayo Clinic Neuroimmunology Laboratory was
the first to introduce comprehensive serological
evaluations for the diagnosis of paraneoplastic neurologic
autoimmune disorders, a group of disorders in which
unusual neurologic signs and symptoms are the initial
manifestations of cancer.
The laboratory continues to discover and clinically validate
novel autoantibody profiles that inform neurological
decision-making and guide the search for cancer.
M AYO M E DI C A L L A B O R AT O R I E S .C O M / N E U RO L O GY
SYMPTOMS OF
AUTOIMMUNE
NEUROLOGICAL
DISORDERS
} Vision loss
} Spinal cord disorders
} Movement disorders
}
Dementia, epilepsy and
encephalopathy
} Myelopathy
}
Paraneoplastic (cancer-related)
neurological disorders
}
Nerve, muscle and
neurotransmission disorders
(neuropathy, myositis and
myasthenia gravis)
}
Autonomic disorders
(e.g., AGID ¨C autoimmune
gastrointestinal dysmotility).
Vanda Lennon, M.D., Ph.D.,
is the founder of the Mayo Clinic
Neuroimmunology Laboratory.
She is also the Dorothy A. Adair
Professor in the Departments of
Laboratory Medicine and Pathology,
Neurology and Immunology at the
College of Medicine at the Mayo Clinic.
COLLEGIAL ACCESS TO
MAYO CLINIC NEUROLOGISTS
Neurologists are available for consultation and assistance
in the interpretation of autoantibody evaluations.
These conversations enable the best diagnosis and
treatment approach, as they provide our neurologists the
opportunity to ask additional clinical information, as well
as address the questions of the ordering neurologist.
AUTOIMMUNE NEUROLOGICAL DISORDERS
NEURAL ANTIBODIES EVALUATED
1
ANTIBODY
COMMON NEUROLOGIC FINDINGS
ANNA-1 (anti-Hu)
Limbic encephalitis, brainstem encephalitis, automatic neuropathies, sensory neuronopathy
ANNA-2 (anti-Ri)
Limbic encephalitis, brainstem encephalitis, myelopathy, peripheral neuropathy
ANNA-3
Limbic encephalitis, brainstem encephalitis, myelopathy, peripheral neuropathy
AGNA (SOX-1 antibodies)
Limbic encephalitis, neuropathy, Lambert-Eaton syndrome
PCA-1 (anti-Yo)
Cerebellar ataxia, brainstem encephalitides, myelopathies, peripheral neuropathies
PCA-2
Limbic encephalitis, ataxia, brainstem encephalitis, Lambert-Eaton syndrome, peripheral and
autonomic neuropathies
PCA-Tr
Cerebellar ataxia, peripheral neuropathies
CRMP-5 IgG (anti-CV2)
Subacute-onset dementia, personality change, aphasia, depression, chorea, ataxia, myelopathy,
radiculopathy, neuropathy
Amphiphysin
Limbic encephalitis, aphasia, other subacute-onset dementias, stiff person phenomena, myelopathy,
neuropathy
VGKC complex, including
LGI1 and CASPR2
Limbic encephalitis, amnestic syndrome, executive dysfunction, personality change, disinhibition,
hypothalamic disorder, brainstem encephalitis, ataxia, extrapyramidal disorders, myoclonus,
peripheral and autonomic neuropathy
NMDA receptor
Amnestic syndrome, anxiety, psychosis, seizures, extrapyramidal disorders
AMPA receptor
Limbic encephalitis, nystagmus, seizures
GABA-B receptor
Encephalitis, seizures
P/Q- and N- type calcium
channel antibodies
Lambert-Eaton syndrome, ataxias, encephalomyelopathies
Ganglionic AChR complex
Somatic and autonomic peripheral neuropathies
Striational antibodies
Typically nonspecific in isolation, but also with myasthenia gravis
Muscle AChR binding and
modulating
Myasthenia gravis
GAD-65
Stiff-man syndrome, ataxia, seizures, brainstem encephalitis, ophthalmoplegia, parkinsonism,
myelopathy, limbic encephalitis, other encephalitides; also type 1 diabetes mellitus
AQP4-IgG
Optic neuritis, longitudinally extensive transverse myelitis; reports of encephalopathies in children
2
3
4
5
LABORATORY DIRECTORS
1 SEAN PITTOCK, M.D.
2 ANDREW MCKEON, M.D.
CONSULTANTS
3 EOIN FLANAGAN, M.B., B.CH.
4 CHRISTOPHER KLEIN, M.D.
5 DANIEL LACHANCE, M.D.
CUSTOMER SERVICE FOR CLINICAL SPECIALISTS
/
8 55-516-8 4 0 4
AUTOIMMUNE NEUROLOGY TESTING
CENTRAL NERVOUS SYSTEM DISORDERS
}
Encephalopathy Autoimmune Evaluation, Serum / CSF (Mayo ID: ENS1 / ENC1)
}
Dementia Autoimmune Evaluation, Serum / CSF (Mayo ID: DMS1 / DMC1)
}
Epilepsy Autoimmune Evaluation, Serum / CSF (Mayo ID: EPS1 / EPC1)
PARANEOPLASTIC, PERIPHERAL NERVE, AND AUTONOMIC DISORDERS
} Paraneoplastic Evaluation, Serum / CSF (Mayo ID: PAVAL / PAC1)
} Autoimmune Dysautonomia Evaluation, Serum (Mayo ID: DYS1)
} Ganglioside Antibody Panel, Serum (Mayo ID: GM1B)
STANDALONE ANTIBODIES
}
Glutamic Acid Decarboxylase (GAD65) Antibody Assay, Serum / CSF (Mayo ID: GD65S / GD65C)
}
Collapsin Response-Mediator Protein-5-IgG (CRMP-5-IgG) Western Blot Serum / CSF (Mayo ID: CRMWS / CRMWC)
NEUROMUSCULAR JUNCTION DISORDERS
} Myasthenia Gravis Evaluation with MuSK Reflex (Mayo ID: MGRM)
} Myasthenia Gravis (MG) Evaluation, Adult (Mayo ID: MGA1)
} Myasthenia Gravis (MG) Evaluation, Pediatric (Mayo ID: MGP1)
}
Myasthenia Gravis (MG)/Lambert-Eaton Syndrome (LES) Evaluation (Mayo ID: MGL1)
} Myasthenia Gravis (MG) Evaluation, Thymoma (Mayo ID: MGT1)
STANDALONE ANTIBODIES
}
Acetylcholine Receptor (Muscle AChR) Binding Antibody, Serum (Mayo ID: ARB1)
} Striational (Striated Muscle) Antibodies, Serum (Mayo ID: STR)
}
Muscle-Specific Kinase (MuSK) Autoantibody, Serum (Mayo ID: MUSK)
NEUROMYELITIS OPTICA (NMO) SPECTRUM DISORDERS
}
Neuromyelitis Optica (NMO)/Aquaporin-4-IgG Fluorescence-Activated Cell Sorting (FACS) Assay, Serum (Mayo ID: NMOFS)
FOLLOW-UP ASSAYS
}
Neuroimmunology Antibody Follow-up, Serum / CSF (Mayo ID: PNEFS / PNEFC)
FOR MORE INFORMATION
ABOUT AUTOIMMUNE
NEUROLOGY TESTING
neurology
news.
/mayocliniclabs
@mayocliniclabs
MC2775-144
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