“Brain on Fire: My Month of Madness” – Diagnosis: NMDA-receptor autoimmune encephalitis

sa article

In 2009 Susannah Cahalan was a healthy 24-year-old reporter at the New York Post, one of the country’s oldest newspapers, when she suddenly developed a range of worrying symptoms. Her left hand went numb, paranoid thoughts obsessed her mind, and migraines and stomachaches beset her body. Initially diagnosed with mononucleosis, Cahalan continued to grow worse, eventually suffering a series of near-fatal seizures, psychosis, and a gradual loss of brain function. She ended up at New York University’s Langone Medical Center, where a team of doctors, led by neurologist Souhel Najjar, diagnosed her with a disease that had been discovered only two years earlier: NMDA-receptor autoimmune encephalitis. In this excerpt Cahalan tells the story of how University of Pennsylvania neuro-oncologist Josep Dalmau first identified the disorder.


NMDA (N-methyl-D-aspartate acid) receptors are vital to learning, memory, and behavior, and they are a main staple of our brain chemistry. If these are incapacitated, mind and body fail. NMDA receptors are located all over the brain, but the majority are concentrated on neurons in the hippocampus, the brain’s primary learning and memory center, and in the frontal lobes, the seat of higher functions and personality. These receptors receive instructions from chemicals called neurotransmitters. All neurotransmitters carry only one of two messages: they can either “excite” a cell, encouraging it to fire an electrical impulse, or “inhibit” a cell, which hinders it from firing. These simple conversations between neurons are at the root of everything we do, from sipping a glass of wine to writing a newspaper lead.

In those unfortunate patients with Dr. Dalmau’s anti-NMDA-receptor encephalitis, the antibodies, normally a force for good in the body, had become treasonous persona non grata in the brain. These receptor-seeking antibodies planted their death kiss on the surface of a neuron, handicapping the neuron’s receptors, making them unable to send and receive those important chemical signals. Though researchers are far from fully understanding how NMDA receptors (and their corresponding neurons) affect and alter behavior, it’s clear that when they are compromised the outcome can be disastrous, even deadly.

Source: http://www.scientificamerican.com/article/brain-on-fire-my-month-of/

More on the disease:

Newly diagnosed brain disease may be misdiagnosed as psychological disorder



Autoimmune Encephalitis: The Brain Disease That Makes People Seem Crazy

Woman with 'jigsaw-pieces' missing from face (Digital Composite)

Woman with ‘jigsaw-pieces’ missing from face (Digital Composite)


When the brain is under attack



Autoimmune Encephalitis: Symptoms

Autoimmune encephalitis (AE) can produce a very wide range of neuro-psychiatric symptoms. A major challenge in diagnosis is that different symptoms may appear at different times and different levels of intensity, so that the disease may mimic many other disorders. Some patients initially present with either neurological or psychiatric symptoms, further complicating diagnosis.

Symptoms associated with AE can include:

  • weakness or numbness of part of the body

  • loss of balance

  • slowed or blurred speech or loss of ability to speak

  • ataxia

  • involuntary movements

  • distorted vision

  • cognitive impairment

  • memory disturbance

  • decreased level of consciousness – to the point of unresponsiveness, catatonia or coma

  • seizures – (either self-evident, or smaller seizures that show up on an eeg reading)

  • partial or complete loss of appetite for long periods

  • food and drink tasting inedible or triggering nausea

  • excessive eating without feeling sated

  • agitation

  • inability to sleep

  • loss of inhibition

  • rapid, pressured, or involuntary speech

  • hallucinations (visual or auditory) and delirium

  • paranoid thoughts

  • severe anxiety

An otherwise unexplained mixture of the above neuro-psychiatric symptoms may be a clue that the underlying cause is autoimmune encephalitis.

If you suspect autoimmune encephalitis, getting diagnosed and early treatment leads to the best outcomes.

Source: https://aealliance.org/living-with-ae/symptoms/

Autoimmune Encephalitis: Diagnosis

A quick diagnosis allows for early and aggressive treatment, improving the opportunity for quick and full recovery.

Autoimmune encephalitis (AE) is a complex disease that often requires collaboration among multiple medical disciplines for effective diagnosis and treatment. Most AE patients can expect to see a team of doctors that may include neurologists, rheumatologists, psychiatrists, immunologists and others.

AE can be caused by different antibodies.  Currently there are 13 known antibodies or triggers for AE but only one commercially available diagnostic test.  Tests for Anti-NMDA Receptor autoimmune encephalitis is commercially available at Athena Diagnostics or Mayo Clinic.  This test should be ordered quickly by your doctor if AE is suspected.

However, negative test results for anti-NMDA Antibodies and/or teratoma do not rule out AE. A significant percentage of AE cases are caused by other, still unknown antibodies, or by known antibodies for which a diagnostic test is not yet available.

In some AE cases an MRI test will show brain inflammation (encephalitis) and/or an EEG test will show generalized slowing or seizure activity in the brain. These two tests can rule out purely psychiatric causes of illness.  For example, voltage-gated potassium channel complex encephalitis, another form of AE, can be recognized on MRI, as reported in a recent study by Kotsenas et al.

Too many general practitioners and even many specialists including psychiatrists and neurologists have little if any experience diagnosing or treating AE. If you suspect AE don’t hesitate to share this information with your medical provider. Disseminating scientific knowledge about diagnosis and treatment of the disease is one of the primary goals of the Autoimmune Encephalitis Alliance.

Source: https://aealliance.org/living-with-ae/diagnosis/

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