Acute Necrotizing Encephalopathy (ANE)

With a series of blogs and a 50% off on all tests, Dante Labs is thrilled to work with Dazzle4Rare to make Whole Genome Sequencing accessible to more people and help them live a better life. 
ANE International has spoken about the disease

About #Dazzle4Rare

Dazzle4Rare represents a group of non-profit communities, patients, and caregivers across genetic and acquired conditions. Banding together means to finally have a voice, thanks to social-strategies in order to reach each other’s friends and family networks. 
By sharing stories, people have an opportunity to raise a greater awareness and, finally, to be heard. 
The more they speak up and speak out, the more likely they are to reach those who may need to hear their message the most.
Dante Labs is happy to give its voice and help them share their words.

Series 2: Acute Necrotizing Encephalopathy (ANE): The word to ANE International

As a way to raise awareness around rare diseases, Dante Labs has decided to create a series of blogs to give people a higher understanding of Acute Necrotizing Encephalopathy (ANE). 

Acute Necrotizing Encephalopathy is a disease characterized by encephalopathy ensued by varying degrees of brain injury. ANE usually follows an acute, mostly viral, infection. Influenza is the leading triggering  virus; other associated viruses include varicella, coxsackie, Covid19, measles and HSV 6 & 7. The symptoms of the viral infection (fever, respiratory infection, and gastroenteritis, among others) are followed by seizures, disturbance of consciousness that may rapidly progress to  coma, liver problems and neurological deficits. ANE typically affects previously healthy children. Although most ANE occurs before age six years, first episodes have been observed in teenagers and adults. The mortality rate of ANE is 30%.

The distinct feature of ANE on MRI is T2- and FLAIR-weighted hyperintensities in the bilateral thalami. Other areas affected will typically include midbrain, cerebellum, pons, and brain stem. The exact pathogenesis of the disease is unknown but it is an immune mediated disease hypothesised to be the result of a cytokine storm.

The disease is caused by both environmental factors and genetic factors. ANE can be familial or sporadic, but both forms are very similar to each other. Most familial cases are caused by mutations in the RANBP2 gene, and are known as “infection-induced acute encephalopathy 3 (IIAE3)”.

The gene variant is autosomal dominant, meaning carriers have a 50% chance of passing it to any offspring. It is important to note, however, that even with the gene mutation, not all mutations will result in ANE. 40% of RanBP2 carriers will experience an episode of ANE after a viral illness. 50% of episodes occur before the age of 2 years.

The probability of recurrence after the first episode is 50% and then 25% after a second episode. Note that triggers (preceding viral illness) vary from one patient to the next. 

The clinical course and the prognosis vary from patient to patient, ranging from a mild form to a severe form. Most survivors are left with neurological sequelae, (eg. fine and gross motor deficits, epilepsy, cognitive impairment, vision issues, developmental delay).

Advantages of getting the Whole Genome Sequencing for Acute Necrotizing Encephalopathy (ANE)

Genetic tests for people with Acute Necrotizing Encephalopathy were far from routine as they used to be limited and too expensive. Whole Genome Sequencing is changing the scenario, as it is comprehensive and gives better chances to yield diagnostics results, change lives. They are not intended to diagnose Acute Necrotizing Encephalopathy  — no known mutation leads to the condition every time -  but results can substantially alter the course of treatments or prevention.

• Genetic testing provides insight into the bigger picture
  It will identify mutations and defects that cause insidious injuries not easily seen by other test techniques. Identifying whether you carry a genetic mutation your genetic mutation can help you determine if you are eligible to enroll in certain clinical trials, the correct one for you.
• Individualized treatment 
  People with a specific genetic mutation will produce better responses and more effective therapies.
• For families
  It offers you the chance to enlighten your family members of the potential predisposition: through precise genetic testing results; you can get a glimpse of the probability of a family member getting a given gene-linked disorder.
• For the entire community
  It helps you to find the right way forward. Beyond benefits for the individual, sequencing exomes may be the only way scientists can uncover the full list of mutations related to autism. Understanding the connection between Autism and genetics can help us understand how the disease develops and ultimately how it can be treated or cured.

Dante Labs will offer its continued support: Whole Genome Sequencing and Whole GenomeZ at 50% off using DAZZLE4RARE discount code.

Together is better!

(ANE International on Facebook, https://aneinternational.org/, @aneinternationa on Twitter, @aneinternational on IG)