Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.myfoxaustin.com/story/275...h-same-illness

Boy with rare disease meets Cowboys player with same illness
Posted: Saturday, December 6, 2014 9:07 PM EST Updated: Sunday, December 7, 2014 2:02 AM EST
...
The Thompson's said besides giving them hope and their son some encouragement, the Okoye's also shared some information about treatment options with them. They have exchanged phone numbers and plan to keep in touch.

http://www.2minutemedicine.com/cxcl1...tis-biomarker/

CXCL13 shows potential as anti-NMDA receptor encephalitis biomarker
December 2, 2014 | Ashley Aaroe and James Jiang

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://link.springer.com/article/10....072-014-1708-6

Neurological Sciences
July 2014, Volume 35, Issue 7, pp 1147-1149
Date: 22 Mar 2014
Reversible symmetrical external capsule hyperintensity as an early finding of autoimmune encephalitis
L Mumoli, A Labate, G Palamara, M Sturniolo? - Neurological Sciences - Springer

A variety of autoimmune etiologies such as anti-LGI1 encephalitis and anti-N-methyl-D-aspartic acid receptor (anti-NMDAR) are being increasingly recognized as causes of encephalitis in children and adolescent [1, 2]. Although many cases of autoimmune ...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.rhyljournal.co.uk/news/13...e-illness.aspx

St Asaph woman speaks out about rare "Breaking Bad" type illness

Published date: 15 October 2014 |
Published by: Dean Jones
Ceri Parry, aged 25, suffers from a rare type of Autoimmune Limbic Encephalitis called Anti-NMDA Receptor, an illness where the body?s immune system attacks part of the brain responsible for mood, memory and learning.

After being misdiagnosed several times, Miss Parry is now receiving treatment and is seeking funding to aid her recovery following a positive blood test in August.
...
Miss Parry, who believe the condition originated when she was working in America aged 19, expressed that she wanted to share her story to ?stop others going through what she has experienced.?

?I went to work at a camp in America for three months and was bitten by something whilst on a road trip,? she added...

The article says this young woman is having a hard time getting medical treatment due to being from Wales.

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://link.springer.com/article/10....760-013-0204-8

Get Access
Find out how to access preview-only content
Acta Neurologica Belgica
September 2014, Volume 114, Issue 3, pp 233-234
Date: 14 May 2013
Remarkable effect of benzodiazepine in a patient with anti-NMDA receptor encephalitis

?ağdaş Erdoğan, İsmail Sarı, Hasan Herken, Eylem Değirmenci, Attila Oğuzhanoğlu

This is an excerpt from the content

Here, we report a case of anti-NMDA receptor encephalitis with a history of vaccination in which peroral low dosages of benzodiazepines caused reversible episodes of wakefulness.

A 42-year-old male patient presented with a reversible attack of blurred vision, paresthesia in his right hand followed by psychiatric symptoms, visual hallucinations, and episodes of disorientation. In the end of the first month, he experienced seizures. He had a history of vaccination just 3 weeks before the symptoms started. Cranial imaging was within normal limits. EEG demonstrated persistent, repeated sharp waves localized to left parietal cortex. Cerebrospinal fluid (CSF) examination revealed an elevated protein level without any cells or microorganism. All infectious markers were negative. Antinuclear antibody profile, lupus anticoagulants were also negative. Whole body 18F-fluorodeoxyglycose positron emission tomograpghy (FDG-PET) demonstrated hyperactivity in bilateral temporoparietal cortex...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.foxsports.com/southwest/s...disease-082214

Cowboys' Okoye making comeback after missing '13 season with rare disease
Shawn Ramsey
FOX Sports Southwest
AUG 22, 2014 12:37p ET
In 2013, defensive tackle Amobi Okoye was diagnosed with a rare autoimmune syndrome called anti-NMDA receptor encephalitis. Now he is working hard to make a comeback to the NFL with the Dallas Cowboy...

http://espn.go.com/blog/afceast/post...n-to-teammates

Amobi Okoye an inspiration to teammates
August, 21, 2014
By Todd Archer | ESPN.com

...

Okoye spent roughly three months in a coma as a result of anti-NMDA receptor encephalitis, a potentially fatal brain disease. He had to learn how to communicate all over again. A high school graduate at 16, who his agent, Ian Greengross, said could have gone to Harvard, Okoye had trouble with the simplest tasks....

http://theday.com/article/20140823/S...39971/-1/SPORT

Strong in spirit, Coast Guard's Kelsey Hickle rises to defeat adversity
By Vickie Fulkerson Publication: The Day
Published August 23. 2014 4:00AM

New London ? On one of her worst days, Kelsey Hickle didn't recognize her father, Bill, when he flew from Texas to see her at Yale-New Haven Hospital.

She couldn't speak, couldn't feed herself, couldn't shower, couldn't write.

Hickle, who wore a blue star on her uniform at the Coast Guard Academy for the highest achievement in physical fitness and who at the time was a sophomore member of the volleyball team, had been stricken by a rare disease, Anti-NMDA receptor encephalitis.

The symptoms started slowly. She was tired no matter how much sleep she got. She couldn't concentrate. Her emotions were a roller coaster. Bible verses which she long ago memorized didn't make sense to her. Nothing made sense. Eventually, she was rendered catatonic...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://philadelphia.cbslocal.com/201...ing-outbursts/

Health: Mysterious Brain Illness Causes Terrifying Outbursts
June 10, 2014 1:27 PM

PHILADELPHIA (CBS) ? It?s a mysterious brain illness that triggers psychotic and violent behavior.

It is rare, and it is often misdiagnosed.

One desperate family grabbed a video camera to document what was happening.

...

A blood test finally revealed PANS ? Pediatric Acute-onset Neuropsychiatric Syndrome. It?s marked by sudden and dramatic outbursts and obsessive behavior, and it?s unusual.

We discovered that he actually had an autoimmune disease attacking his blood and blood vessels,? explains Dr. Jennifer Frankovitch.

It was also attacking the brain, triggering psychiatric problems.

A lot isn?t known about the newly identified syndrome.

?Maybe about 14 to 40 percent of the cases, we think strep triggers it?we just don?t know yet,? Dr. Frankovitch says...

The symptoms started in 2009 at age 7.

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.tennessean.com/story/news...fight/9860755/

Donations help girl, 6, in encephalitis fight
Maranda Faris; 7:26 a.m. CDT June 2, 2014

The mother of a 6-year-old South Nashville girl has taken to the Internet to raise money for the medical bills her daughter has accumulated after she developed a disease that began to attack her brain.

On April 17, Callie Hulsey had a seizure at school.
...
A week before her hospitalization, Callie had an ear infection. That, doctors told her mother, caused viral meningitis. The bout of meningitis, in turn, caused encephalitis to attack Callie?s brain, the doctors said.

Last week, Callie?s doctors told the Hulsey family that their daughter has anti-NMDA receptor antibody encephalitis, an autoimmune form of encephalitis that causes inflammation in the brain...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://news.pennmedicine.org/blog/20...ew-center.html

Obscure Neurologic Diseases Discovered at Penn to be Focus of New Center
Posted by Kim Menard on January 29, 2014
...
The new center, developed through Penn?s department of Neurology, will be run by leaders in the field including center director Josep Dalmau, MD, PhD, adjunct professor of Neurology and Eric Lancaster, MD, PhD, assistant professor of Neurology. The clinic will focus on consultations and long-term care of patients with antibody mediated neurological diseases such as anti-NMDA receptor encephalitis. Physicians from outside hospitals can refer patients to the center, and patients with a positive antibody diagnosis can make appointments for follow-up care. Additionally, Penn neurologists will handle in-patient consults of those hospitalized at the Hospital of the University of Pennsylvania with autoantibody disorders...

Pediatric Neurology
Available online 29 May 2014
Three phenotypes of anti-NMDA receptor antibody encephalitis in children: prevalence of symptoms and prognosis

Allen D. DeSena, MD, MPHa, b, Benjamin M. Greenberg, MD, MHSa, b,
Donna Graves, MDa, b

...

Results

We note that the poorest responders, even to aggressive immunotherapies, are the catatonia persistent type anti-NMDA receptor antibody encephalitis, which has as its hallmark, prolonged periods of severe encephalopathy. Patients with predominantly psychiatric symptoms, which we call the psychiatric predominant NMDA receptor antibody encephalitis, have had excellent responses to plasma exchange or other immunotherapies and appear to have the least residual deficits at follow-up. Patients with fairly equal representations of periods of altered mental status, behavior problems, and movement disorders appear to have an intermediate prognosis and likely require early aggressive immunotherapy...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

Detailed report of a battle with anti-NMDAR encephalitis:

http://www.washingtonpost.com/nation...14b_story.html

The doctor and the teenager

By Sandra G. Boodman, Published: April 28

As the jet hurtled toward New York?s John F. Kennedy International Airport on New Year?s Day 2013, the clinical psychologist watched her 16-year-old daughter warily, praying there would be no recurrence of the girl?s inexplicable and bizarre behavior.

...

Carmen remembers feeling elated by this turn of events. ?You think, ?Well, that?s it, they know what it is and they?re going to cure her and she?s going to be out of here in three days,? she said.

But Marcuse knew that nothing could be further from the truth. Mia?s illness is ?like walking someone through Hades,? the neurologist said. ?And most people get worse before they get better.?...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.mercurynews.com/health/ci...rds?source=pkg

Misdiagnosed bipolar: One girl's struggle through psych wards before Stanford doctors make bold diagnosis and treatment
Julia Prodis Sulek
Posted: 04/19/2014 04:16:41 PM PDT57 Comments | Updated: 5 days ago

...

Controversial diagnosis

What Frankovich, a pediatric rheumatologist, and Dr. Kiki Chang, a child psychiatrist, concluded was that Tessa likely had an infection or other trigger that caused her immune system to mistakenly attack her brain, dramatically changing Tessa's behavior overnight. It's a condition called PANS -- pediatric acute-onset neuropsychiatric syndrome -- that in some cases, if caught early enough, could be cured by commonly used antibiotics. Without early treatment, they say, children can suffer needlessly.
...
"To know how many patients are in mental institutions that have treatable diseases," Frankovich said, "we can't even wrap our head around this."...

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.neurology.org/content/82/...t/P5.179.short

April 30, 2014
Poster Session V
CNS Diseases and Differential Diagnosis

Anti-NMDA Receptor Antibodies in Neurologic Disease (P5.179)

Jessica Panzer3, Bailey Baumann2, Hiro Furukawa4, Noriko Simorowski5,
Amy Gleichman1 and David Lynch1

Neurology April 8, 2014 vol. 82 no. 10 Supplement P5.179

Abstract

OBJECTIVE:To understand the role of anti-NMDAR antibodies in the pathogenesis of autoimmune encephalitis and other neurological disorders.BACKGROUND:Anti-NMDAR encephalitis, a recently discovered syndrome associated with psychosis, altered consciousness, seizures, dyskinesias, and autonomic dysfunction, is now known to be one of the most commonly identified causes of encephalitis. IgG antibodies in this syndrome may have increased affinity for the open conformation of the n-methyl-D-aspartate receptor (NMDAR), and transiently stabilize this conformation. Over the longer term, there is NMDAR hypofunction due to receptor cross-linking and internalization. Recently, anti-NMDAR IgA antibodies were found both in a progressive dementia and also in some patients with anti-NMDAR encephalitis. Anti-NMDAR antibodies have also been noted in relapse of herpes simplex encephalitis, Creutzfeldt-Jakob disease, and neuropsychiatric lupus...

http://onlinelibrary.wiley.com/doi/1...mds.25623/full

Mohammad, S. S., Sinclair, K., Pillai, S., Merheb, V., Aumann, T. D., Gill, D., Dale, R. C. and Brilot, F. (2014), Herpes simplex encephalitis relapse with chorea is associated with autoantibodies to N-Methyl-D-aspartate receptor or dopamine-2 receptor. Mov. Disord., 29: 117?122. doi: 10.1002/mds.25623

http://onlinelibrary.wiley.com/doi/1...mds.25626/full

Hacohen, Y., Deiva, K., Pettingill, P., Waters, P., Siddiqui, A., Chretien, P., Menson, E., Lin, J.-P., Tardieu, M., Vincent, A. and Lim, M. J. (2014), N-methyl-D-aspartate receptor antibodies in post?herpes simplex virus encephalitis neurological relapse. Mov. Disord., 29: 90?96. doi: 10.1002/mds.25626

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://www.wtov9.com/news/features/t...tal-3768.shtml

Teen returns home from hospital

Updated: Thursday, April 3 2014, 08:08 AM EDT

TORONTO, Ohio --

A homecoming queen’s senior year was cut short after she came down with a rare disease in December but this week she was able to finally go home to be with her family.

Hannah Leasure, a Toronto High School senior, was a healthy teen who was hospitalized on Christmas Eve after developing anti-NMDA receptor encephalitis, a rare condition that affects the brain...

http://iospress.metapress.com/content/e78n0861qlv220x7/

Neuroimmune diseases are increasing. Is there a possible vaccine link?

Journal Journal of Pediatric Neurology
Publisher IOS Press
ISSN 1304-2580 (Print)
1875-9041 (Online)
Subject Pediatrics, Neurology, Neuroradiology, Neurosciences, Child Psychiatry and Epilepsy
Issue Volume 11, Number 4 / 2013
Category Review Article
Pages 201-209
DOI 10.3233/JPN-130623
Subject Group Medicine and Health
Online Date Tuesday, January 07, 2014
Publisher's Copyright Statement
Authors
Alisan Yildiran1, Süleyman Kaplan2, Mehmet Emin Önger2

1Department of Pediatric Immunology-Allergy, School of Medicine, Ondokuz Mayıs University, Samsun, Turkey
2Department of Histology-Embryology, School of Medicine, Ondokuz Mayıs University, Samsun, Turkey
Abstract

Autoimmune and neuroimmune diseases prevalence rates are rising enormously. It would be difficult to explain with genetic and environmental factors. Noteworthy, this rising maybe related with childhood vaccine programs. There is also a lack of information about this topic in pediatric and family medicine practice in some countries like Turkey. Prevention and treatment of these diseases is possible if pathogenesis could be well understood. We attempt to review this topic in immunological and neurological perspectives for this purpose. We searched Pubmed from year 2000 to date with neuroimmune, autoimmune, measles and vaccine link keywords in some combinations and related topics. The obtained information from this search dealt with some important subheadings. There is a need for further investigations of neuroimmune disease and the possible vaccine link.

Keywords
Neuroimmune, autoimmune, measles, vaccine link

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://tbonescafe.com/we-recommend/a...rday-march-1st

A Concert for Coco ? Saturday, March 1st

Posted: February 21, 2014 at 8:46 pm
...Coco is a Hattiesburg native and is a senior at Southern Miss. She was recently diagnosed with anti-NMDA receptor encephalitis, a very rare disease. While the road to recovery will be long, we know that Coco is a fighter. By bringing her love for music to one of her favorite venues, we hope to gather both morale and financial support that will help alleviate the financial burden that her journey may have...

Very rare or relatively common now?

www.texasneurologist.org (Meeting notice in Word doc format)

Schedule of Events
Friday, February 28, 2014
Pediatric Neurology
Moderators: Gary Clark, MD and Eli Mizrahi, MD

8 ? 9 AM
Approach to Autoimmune Encephalitis
Amber Stocco, MD and Eyal Muscal, MD

Objectives: Describe the relatively common but recently discovered entity: NMDA Receptor Antibody Encephalitis; Recognize clinically and medically the typical semiology of associated movement disorders of NMDA Encephalitis: dystonia, chorea, myoclonus, ataxia and stereotypes; Detail long term prognosis and prolonged care needed for this disorder.

http://www.asianjournalofpsychiatry....372-9/abstract

Asian Journal of Psychiatry
Volume 7, Complete , Pages 92-94, February 2014
Anti-NMDA receptor encephalitis: A neurological disease in psychiatric disguise

Bhawna Sharma, Rahul Handaemail, Swayam Prakash, Kadam Nagpal,
Pankaj Gupta

Received 9 November 2013; received in revised form 21 November 2013; accepted 23 November 2013. published online 19 December 2013.

Abstract

Anti-NMDA receptor encephalitis was first described in 2005 when psychiatric features, memory loss and altered consciousness were found in four women with ovarian teratoma. We report a case of anti-NMDA receptor encephalitis in a 16-year-old female who presented with psychiatric features followed by autonomic dysfunction and orofacial dyskinesias that showed drastic improvement to intravenous immunoglobulin. As many patients of anti-NMDAR encephalitis initially present with psychiatric features, it is important for psychiatrists to have high index of suspicion for this disease and thus avoid the delay in diagnosing this treatable condition which may be otherwise fatal.

http://www.researchgate.net/publicat...and_immunology

Autoimmune synaptic protein encephalopathy syndromes and the interplay between mental health, neurology and immunology

Gregory S Day, Harry E Peery
Health Science Inquiry 06/2013; 4(1):89-92.

ABSTRACT Indirect evidence supporting the organic underpinnings of mental illness has accumulated over the past five decades, driven by advances in neuropharmacology, neurochemistry, neuroimaging, and neuropathology, and by expanding knowledge of the structural and ultra-structural changes that occur within the brains of patients with behavioural and affective symptoms. 1 Yet, despite a growing body of evidence, a distinction continues to be drawn between psychological anomalies of the mind and organic disorders of the nervous system. The recent isolation and characterization of pathogenic autoantibodies within the blood and cerebrospinal fluid of patients with symptoms and signs commonly associated with 'mental illness' raises new questions about the origins and pathogenesis of behavioural and affective disorders, providing a timely and welcome challenge to the ideology that divides mental illness and neurological disorders. ? Autoimmune synaptic protein encephalopathy syndromes and the interplay between mental health, neurology and immunology

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

http://onlinelibrary.wiley.com/doi/1...12204/abstract

Title: CLIPPERS: chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids. Review of an increasingly recognized entity within the spectrum of inflammatory central nervous system disorders

Author: A. Dudesek,F. Rimmele,S. Tesar,S. Kolbaske,P. S. Rommer,R. Benecke,U. K. Zettl
Publication: Clinical & Experimental Immunology
Publisher: John Wiley and Sons
Date: Feb 4, 2014
? 2013 British Society for Immunology

Summary

Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a recently defined inflammatory central nervous system (CNS) disorder, prominently involving the brainstem and in particular the pons. The condition features a combination of clinical symptoms essentially referable to brainstem pathology and a characteristic magnetic resonance imaging (MRI) appearance with punctate and curvilinear gadolinium enhancement ?peppering? the pons. The radiological distribution is focused in the pons and adjacent rhombencephalic structures such as the cerebellar peduncles, cerebellum, medulla and the midbrain. While the lesion burden with a perivascular pattern is typically most dense in these pontine and peripontine regions, enhancing lesions may additionally extend into the spinal cord and supratentorial structures such as the thalamus, basal ganglia, capsula interna, corpus callosum and the cerebral white matter. Another core feature is clinical and radiological responsiveness to glucocorticosteroid (GCS)-based immunosuppression. As withdrawal of GCS treatment results commonly in disease exacerbation, long-term immunosuppressive therapy appears to be mandatory for sustained improvement. Diagnosis of CLIPPERS is challenging, and requires careful exclusion of alternative diagnoses. A specific serum or cerebrospinal fluid (CSF) biomarker for the disorder is currently not known. Pathogenesis of CLIPPERS remains poorly understood, and the nosological position of CLIPPERS has still to be established. Whether CLIPPERS represents an independent, actual new disorder or a syndrome that includes aetiologically heterogeneous diseases and/or their prestages remains a debated and not finally clarified issue. Clinicians and radiologists should be aware of this condition and its differential diagnoses, given that CLIPPERS constitutes a treatable condition and that patients may benefit from an early introduction of GCS ensued by long-term immunosuppression. Based on previous reports in literature ? currently encompassing more than 50 reported cases of CLIPPERS ? this review addresses clinical features, diagnostic criteria, differential diagnoses and therapeutic management of this peculiar disorder.

See also:
Chronic Lymphocytic Inflammation With Pontine Perivascular Enhancement Responsive to Steroids Following Influenza Vaccination

[Emily]

Re: Anti-NMDA receptor encephalitis and other emerging autoimmune brain diseases

www.karger.com/Article/PDF/358820

Case Rep Neurol 2014;6:38?43
DOI: 10.1159/000358820
Published online: February 8, 2014
? 2014 S. Karger AG, Basel
1662‒680X/14/0061‒0038$39.50/0

https://www.karger.com/crn

This is an Open Access article licensed under the terms of the Creative Commons Attribution-NonCommercial 3.0 Unported license (CC BY-NC) (www.karger.com/OAlicense), applicable to the online version of the article only. Distribution permitted for noncommercial purposes only.
Salvatore Monaco, MD
Department of Neurological and Movement Sciences
University of Verona, Policlinico G.B. Rossi, P. le L.A. Scuro 10
IT?37134 Verona (Italy)
E-Mail [see article]
Anti-N-Methyl-D-Aspartate Receptor Encephalitis Causing a Prolonged Depressive Disorder Evolving to Inflammatory Brain Disease
Sara Mariottoa Stefano Tamburina Alessandro Salviatia Sergio Ferraria
Marco Zoccaratoc Bruno Giomettoc Laura Bertolasia Franco Alessandrinib Maria Donata Benedettia Salvatore Monacoa aDepartment of Neurological and Movement Sciences, University of Verona, and bDivision of Neuroradiology, AOUI, Verona, and cDepartment of Neurology, Regional Hospital ?Ca? Foncello?, Treviso, Italy

Key Words
Anti-N-methyl-D-aspartate receptor encephalitis ? Optic neuritis ? Depressive disorder

Abstract
Background: Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a rapidly evolving condition that combines psychiatric and neurologic manifestations. Much remains unclear about its clinical onset and subsequent course. Although successful treatment depends on diagnosing the disorder early and therefore minimizing long-term complications, this is a difficult task owing to the atypical onset of this condition and the prolonged clinical course that has been observed in some patients. This report, illustrating a patient with slowly progressing psychiatric manifestations, unusual imaging and electrophysiological features, extends the information on varied clinical phenotypes.
Case Report: A 32-year-old woman suffered from an isolated depressive disorder for 4 months before undergoing psychiatric evaluation. During the following 5 months, she manifested hypersexuality, dysarthria, imbalance, dyskinesias and decreased word output. Brain magnetic resonance
imaging (MRI) showed multifocal hyperintense T2/FLAIR lesions, a few contrast-enhanced, involving the corona radiata, the periventricular white matter, the deep gray nuclei, the optic nerves and the brainstem. MRI spectroscopy disclosed confluent bilateral demyelination and focal optic nerve involvement suggesting widespread encephalitis. Visual evoked potential
studies indicated a demyelinating disorder. Serological screening and total body positronemission tomography yielded negative findings for malignancies. Cerebrospinal fluid examination disclosed IgG oligoclonal bands and nti-NMDAR antibodies. Corticosteroids and intravenous immunoglobulin provided only slight improvement, whereas switching to cyclophosphamide markedly improved her neurological status.
Conclusion: In patients with a prolonged clinical course, including psychiatric and neurological symptoms, the differential diagnosis should be anti-NMDAR encephalitis. This report expands the known disease phenotypes in this emerging condition. ? 2014 S. Karger AG, Basel

Full text at link.