Feature Article
TOP STORY - Glenn Irvine Prize Winner Announced
Kevin Peikert Awarded the 2023 Glenn Irvine Prize
by Despina Dinca


Thank you for reading this 42nd edition of NA News. We are pleased to announce the winner of the 2023 Glenn Irvine Prize, Dr. Kevin Peikert (shown above), and to provide details on the upcoming 11th International Meeting on Neuroacanthocytosis Syndromes to be held in Homburg/Saar, Germany in mid-September at University Hospital of Saarland University. We are also excited to share news of medical progress resulting from two recent grants, introduce The Advocacy's new charity manager, provide details of the upcoming 14th VPS13 Forum, some intriguing updates from patients, and more. Read on...

The Second Winner of the Glenn Irvine Prize 2023 – Dr Kevin Peikert


The Glenn Irvine Prize is an award of GBP 5,000 which pays tribute to Glenn Irvine's service to Neuroacanthocytosis (NA) patients and further the aspiration to find a cure. The funds are meant to support and encourage researchers as early as possible in their careers to pursue research with the ultimate aim of curing the NA syndrome that causes the diseases chorea-acanthocytosis (VPS13 disease) and McLeod syndrome (XK disease).


This year the Board of Fellows unanimously decided to award the Glenn Irvine Prize to Dr. Kevin Peikert in recognition of his outstanding work and commitment to research into finding a cure for chorea-acanthocytosis (ChAc). Dr Peikert is currently a clinician scientist at the Department of Neurology and the Section for Translational Neurodegeneration Albrecht Kossel at the University Medicine in Rostock, Germany.


Dr. Peikert will be formally presented with the award at the upcoming 11th International Symposium on NA Syndromes in September in Homburg, Germany.


Dr. Peikert started his career in Dresden, Germany where he also helped to organise and manage the Ninth International Symposium on NA Syndromes in March 2018. The meeting brought together patients, their families and caregivers along with scientists who presented their latest findings and prospects in research.


The next symposium which was held virtually in 2021 from Barcelona, Spain (due to pandemic restrictions at the time) inspired the community to facilitate continued conversation and the virtual VPS13 Forum was initiated and has been running since May 2021. Dr. Peikert coordinates and co-hosts these successful forums held every two months. The live sessions are open to all those interested.



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New interactors and a cellular model resulted from a grant awarded by NA Advocacy
by Despina Dinca and Ricardo Escalante

Dr. Ricardo Escalante and colleagues  successfully complete a three year project funded by The Advocacy regarding the molecular function of VPS13A and cellular models. 

The project titled “Advancing on the molecular function of VPS13A and cellular models for preclinical studies” was conducted by Dr. Ricardo Escalante, Principal investigator, Dr. Oliver Vincent and Alba Tornero (PhD student) at the Biomedical Research Institute in Madrid. The project started in May 2020 and it was successfully completed last month, in May 2023. The total award from NA Advocacy amounted to EUR 38,500.


The project had two objectives. The first one studied the molecular function of VPS13A in order to identify new interactors. The team identified a new endosomal adaptor, SNX5, for recruitment of VPS13A to endosomal subdomains. An endosomal adaptor has the key function to regulate the traffic of proteins to their correct destination inside the cell. This work has been published this month: The association of lipid transfer protein VPS13A with endosomes is mediated by sorting (June 2023).


The second objective of the project was to establish a cellular model for preclinical studies. Having such a model helps researchers to screen for potential new drugs and it also allows to capture data on any possible harmful side effects. The use of knockout pools of HeLa cells (the oldest and most commonly used human cell line in scientific research) seems to be an adequate model to study the effects of the VPS13A alterations and the possible use of different compounds. The researchers used a mixture of wild type (WT) cells and edited (KO) cells and they observed that rapamycin, a potent activator of autophagy, partially suppressed the difference in lysosome accumulation between VPS13A KO and WT cells, suggesting that modulation of the autophagic and lysosomal pathway could be a therapeutic target in the treatment of chorea-acanthocytosis (ChAc). Rapamycin was originally developed as an immunosuppressant for organ transplant patients. This is the first time that rapamycin has been used in a preclinical study in the context of ChAc, and the results of the research warrant further investigation in more complex models on the potential use of rapamycin and the pathways affected by this treatment. These findings were also published last month: Effect of rapamycin on lysosomal accumulation in a CRISPR/Cas9-based cellular model of VPS13A deficiency (May 2023).


First Paper Published Resulting from Neuropathology of Neuroacanthocytosis Project
NA-USA funded brain research makes progress with lipodomics study
by Gabriel Miltenberger-Miltényi and Joy Willard-Williford

NA researcher Gabriel Miltenberger-Miltényi and colleagues recently published their scientific findings in Movement Disorders, the official journal of the International Parkinson and Movement Disorders Society.

The 12 June 2023 issue of Movement Disorders marked the publication of the first research paper written as the result of the Neuropathology of Neuroacanthocytosis project at the Icahn School of Medicine at Mount Sinai. Titled "Sphingolipid and Phospholipid Levels Are Altered in Human Brain in Chorea-Acanthocytosis," Gabriel Miltenberger-Miltényi and his team  presented the first evidence of altered sphingolipid and phosholipid levels in the brains of patients with chorea-acanthocytosis (VPS13A).  From the abstract:



Chorea-acanthocytosis (ChAc) is associated with mutations of VPS13A, which encodes for chorein, a protein implicated in lipid transport at intracellular membrane contact sites.


The goal of this study was to establish the lipidomic profile of patients with ChAc.


We analyzed 593 lipid species in the caudate nucleus (CN), putamen, and dorsolateral prefrontal cortex (DLPFC) from postmortem tissues of four patients with ChAc and six patients without ChAc.


We found increased levels of bis(monoacylglycerol)phosphate, sulfatide, lysophosphatidylserine, and phosphatidylcholine ether in the CN and putamen, but not in the DLPFC, of patients with ChAc. Phosphatidylserine and monoacylglycerol were increased in the CN and N-acyl phosphatidylserine in the putamen. N-acyl serine was decreased in the CN and DLPFC, whereas lysophosphatidylinositol was decreased in the DLPFC.


We present the first evidence of altered sphingolipid and phospholipid levels in the brains of patients with ChAc. Our observations are congruent with recent findings in cellular and animal models, and implicate defects of lipid processing in VPS13A disease pathophysiology.


The full article may be accessed at: https://doi.org/10.1002/mds.29445


Neuroacanthocytosis Advocacy USA, Inc. is grateful to its generous donors for their part in making this important study happen. It is anticipated that a parallel study will soon begin on McLeod syndrome.


Time to Register for the 11th International Meeting on Neuroacanthocytosis Syndromes
Patients and their families encouraged to attend
by Lars Kaesnter, Despina Dinca, and Ginger Irvine

Hosted by Lars Kaestner, the 11th International Meeting on Neuroacanthocytosis Syndromes will be held in Homburg, German on September 15-17, 2023. Clinicians, researchers, patients and families are encouraged to register.

The agenda for the 11th International Meeting on Neuroacanthocytosis Syndromes is shaping up to be informative and helpful to researchers, clinicians, patients, families, and carers alike. A special track will beSaarland University Medical Center held for patients and their families and carers. The Advocacy and NA-USA are encouraging patients and their families to attend. The following special email invitation will be sent soon to those for whom emails are on file. The registration link in the body of the invitation below, however, may be used for all interested persons - clinicians, researchers, and patients.


11th International Meeting on Neuroacanthocytosis Syndromes 

15-17 September 2023, Homburg (Saar), Germany 

Dear Friend 

Are you affected by neuroacanthocytosis (NA) (chorea-acanthocytosis or McLeod syndrome) - either as a patient, family member, friend, or caregiver? 

The Advocacy for Neuroacanthocytosis Patients and Neuroacanthocytosis Advocacy USA, Inc. are helping to organise the 11th international meeting of those affected by NA. We are small charities registered in the UK and the US respectively. We support people all over the world and we welcome the involvement of all those affected by NA in advocating for awareness and research in these diseases. 

You are invited to participate in this 11th meeting with the experts from around the world. They will be sharing their knowledge of current research being undertaken to better understand the nature of the diseases, and to improve care and daily life for patients and families. The ultimate goal is to develop treatments and eventually a cure, and your participation is crucial!  

This will be an opportunity to meet others and their families and carers affected by NA. 



Location: Saarland University Medical Center 
(more details on location, accommodation and travel are on the registration page)

If you cannot attend, but are still interested in the event, please let us know. 

And if you are interested in helping our charity, we would love to hear from you from wherever you are in the world. We are always welcoming Patient Advocates who may be able to

  • translate our newsletter, NA News, in other languages 
  • contribute with their energy and expertise to advance awareness, education and support for people affected by NA 
  • organise or promote fundraising events. 

Please share this invitation with anyone you think it may be useful to. 

We look forward to seeing you in Homburg! 



Prof. Dr. Adrian Danek 
Dr Ruth Walker 

Ginger Irvine, Founder 
Susan Wagner, President (USA) 
Joy Willard-Williford, Vice President (USA) 
Despina Dinca, Charity Manager (UK) 

Upcoming 14th VPS13 Forum - July 31, 2023
Topic: View from the patient advocacy organizations
by Kevin Peikert

You won't want to miss the upcoming VPS13 Forum hosted by The Advocacy and by NA-USA on July 31st. Read on to learn about the upcoming forum and two prior forums.


Presented by The Advocacy for Neuroacanthocytosis Patients (based in London) and Neuroacanthocytosis Advocacy USA (based in the United States), this unique forum will give attendees the opportunity to learn more about the work of the advocacy organizations and to hear from the perspectives of patients and carers. They will be joined by Adrian Danek and Ruth Walker. Save the date: July 31, 2023.



Zoom links and exact times will be shared via email invitation and social media. To be notified, please contact Kevin Peikert and request to be added to the email distribution list. Kevin may be reached at: Kevin.Peikert@med.uni-rostock.de




The topics discussed and presenters at the 13th and 12th VPS13 forums respectively, were as follows:


13th Forum - May 22, 2023


Update on neuropathology of neuroacanthocytosis syndromes project

Ruth H. Walker

Department of Neurology, Mount Sinai School of Medicine, New York, and James J Peters Veterans Affairs Medical Center, New York, NY, USA


The story of hobbit and the novel superfamily of bridge-like lipid transfer proteins


Division of Pharmaceutical Sciences, University of Wisconsin-Madison, WI, USA


VPS13 and Atg2 cooperate to drive autophagy

Martin Graef

Department for Molecular Biology and Genetics, Cornell University, Ithaca, NY, USA



12th Forum - Mar 27th

The wide neuromuscular spectrum of VPS13A disease demonstrated by a case series

Anne Buchberger

Department of Neurology, Klinikum rechts der Isar, Technical University Munich, Munich, Germany


Neuromuscular involvement in McLeod syndrome

Hans Jung

Department of Neurology, University Hospital and University Zurich, Zurich, Switzerland


Neuroacanthocytosis Syndromes in an Italian Cohort: Clinical Spectrum, High Genetic Variability and Muscle Involvement (preliminary title)

Marina Melone & Pietro Chiurazzi

Department of Advanced Medical and Surgical Sciences, 2nd Division of Neurology, Center for Rare Diseases and Interuniversity Center for Research in Neurosciences, University of Campania "Luigi Vanvitelli", Naples, Italy & Istituto di Medicina Genomica, Università Cattolica del Sacro Cuore, Roma, Italy.


Integrated analysis of skeletal muscle from Vps13a-/- mice revealed neuro-/myopathic (?) metabolic signature and impaired autophagy.

Lucia De Franceschi

Department of Medicine, University of Verona & AOUI Verona, Policlinico GB Rossi, Verona, Italy






Anthony Monaco of Tufts University Visits the Irvines in London
Family has a long friendship with accomplished leader, scientist and teacher
by Ginger Irvine

Alex and Ginger Irvine recently welcomed Tufts University president Anthony Monaco and his wife Loia to their London home.

Alex Irvine and her mother have received a visit from a friend from the past with two very different connections to her life. Firstly Alex graduated from Tufts University in Boston MA in 1993 and has continued toAnthony and Lola Monaco with Alex Irvine read about her classmates, the college activities and milestones of those who came after her. The President of Tufts for the last 12 years, Anthony Monaco and his wife Loia came to London to attend an event for Tufts alumnae in London; they were kind enough to spend time with the Irvines and catch up on our news and relate what their years in academia meant to them and their family. 


The second connection was made in person over 20 years ago when Tony, Director of the Wellcome Trust Centre for Human Genetics in Oxford led a team which discovered the mutant gene,  the cause of chorea-acanthocytosis (VPS13). If you wish to read the Nature article click here: https://www.researchgate.net/publication/11958149_A_conserved_sorting-associated_protein_is_mutant_in_chorea-acanthocytosis He and Adrian Danek opened the first NA Symposium organised by Adrian held in Seeon, Germany in 2003- see photo.Anthony Monaco and Adrien Danek, 2003


People are amazed when we tell them we know the President of Tufts University who just happened to lead the Oxford lab in which the VPS13 gene was discovered to be the culprit in our ultra rare disease.



Patients Celebrate Life & Milestones
Sun, Fun, and Celebration
by Joy Willard-Williford

Patients Mike Koutis and Mark Williford (Mark shown at right) shared a few photos of some of their recent activities. Mike has ChAc (VPS13A) and Mark has McLeod syndrome (XK).

Canadian Mike Koutis loves the sunshine and being able to get out-of-doors. Kristy Santangelo visits him daily, and takes him outside whenever she can. 





















Mike sits by a lovely coy pond outside of the facility where he resides.




























Mark Williford lives in Florida, and recently enjoyed a trip to the nearby St. John's River with his wife Joy and friend Jasper, a financial supporter of NA-USA.















Mark also was pleased to attend the mid-May baccalaureate and high school graduation ceremonies of his eldest grandchild, redheaded Emerson.

















Emerson with her grandparents on the day of her graduation.





























Meet our Translator of Spanish - Vicki Spray
NA News Continues to Seek Translators
by Joy Willard-Williford

Vicki Spray volunteers as our Spanish translator of the NA News.

Vicki is sister to Bob Metzel. Bob has McLeod syndrome (XK) and serves on the board of NA Advocacy USA. The siblings are shown in the photo on the right.


As our patients are located all over the world, we can use some help with translations of NA News from English to other languages.


Help us reach more patients, doctors, and researchers. We are looking for French, German,  Italian...any language. If you can help us extend our reach to others, please contact Ginger Irvine at ginger@naadvocacy.org.

The Advocacy for NA Patients Welcomes New Charity Manager
Despina Dinca joins team at The Advocacy
by Despina Dinca

The Advocacy for Neuroacanthocytosis Patients is pleased to welcome Despina Dinca as its new charity manager. Read on to learn more about her.

Despina brings more than 30 years’ experience in operations management, partnership management, relationship management and marketing in both the private and charity sectors. She has a strong track record of creating and improving business processes and customer-oriented systems. She has a solid knowledge of the medical research landscape and research funding management, along with a keen interest in business analytics.  


Most recently, Despina was Operations Manager at the National Cancer Research Institute (NCRI), where she managed relationships and partnerships with key stakeholders, with a focus on enhancing customer experience and identifying new partnering opportunities.


A deeply held passion for meaningful causes led Despina to start her career in the non-profit sector as a member of the research team at Diabetes UK in 2007. A native of Bucharest, Romania, she spent 14 years working for a transportation holding in the private sector before relocating to the UK.


Despina holds a Professional Diploma in Business Management from The Open University. Most recently she completed an executive training course in Business Analytics at Imperial College Business School. She enjoys attending short courses in graphic design and is a qualified auditor in quality systems. Despina is fluent in English and Romanian and has advanced knowledge of German and French.

NA-USA Publishes 2022 Annual Report
by Joy Willard-Williford

Neuroacanthocytosis Advocacy USA, Inc. is pleased to share its 2022 Annual Report.NA-USA Logo