Neurogenetica Clinica Pisa

08/08/2026

Michal Minczuk to lead new £50 million centre to study mitochondrial diseases

https://www.mrc-mbu.cam.ac.uk/news/michal-minczuk-lead-new-ps50-million-centre-study-mitochondrial-diseases

04/08/2026

This systematic review and meta-analysis evaluated the prevalence and features of motor neuron, extrapyramidal, and cognitive involvement in RFC1 disease: https://hubs.la/Q04nRr7s0

04/08/2026

Nature Reviews Neurology: A decade after the first disease-modifying therapy was approved for spinal muscular atrophy, transforming the disease outlook, the field continues to evolve in response to real-world evidence, emerging phenotypes and new therapeutic strategies. This Review examines the challenges and opportunities presented by long-term outcomes, newborn screening and the emergence of sequential and combinatorial treatment approaches.

Link to the Review in the comments.

04/08/2026

Some milestones represent much more than a new appointment.

I am truly honoured and delighted to have been appointed Chair of the Programme Committee of the European Academy of Neurology (EAN) and to join the EAN Board.

As Programme Committee Chair, I will have the privilege of leading the scientific programme of the EAN Congress, the largest and most important neurology congress in Europe, bringing together more than 8,000 neurologists every year. Together with the Annual Meeting of the American Academy of Neurology (AAN), it is widely regarded as one of the world's most prestigious and anticipated events in clinical neuroscience.

This appointment is both a great honour and a significant responsibility. I look forward to serving the neurological community by helping shape an outstanding scientific programme that fosters excellence, innovation, collaboration, and education.

A new and exciting chapter begins.

Meet the EAN Board members - the individuals who devote their time to the development of EAN, engaging daily in the management of the society, organising meetings, research projects and educational programmes, and much more. They are dedicated to making EAN the home of neurology for all neurologists...

04/08/2026

Ci sono traguardi che rappresentano molto più di un nuovo incarico.

Sono davvero felice e onorato di essere stato nominato Chair del Programme Committee della European Academy of Neurology (EAN) ed entrare a far parte del Board dell'Accademia: https://www.ean.org/home/organisation/meet-the-board.

Tra le responsabilità di questo ruolo vi è la guida del programma scientifico dell'EAN Congress, il più importante congresso europeo di neurologia, che ogni anno riunisce oltre 8.000 neurologi provenienti da tutto il mondo e che, insieme al congresso dell'American Academy of Neurology, rappresenta uno degli appuntamenti scientifici più prestigiosi e attesi a livello internazionale.

È un riconoscimento che mi riempie di orgoglio e che considero soprattutto una grande responsabilità. Cercherò di svolgere questo ruolo con entusiasmo, dedizione e spirito di servizio, contribuendo a rendere il Congresso EAN un luogo sempre più stimolante di confronto, innovazione e crescita per tutta la comunità neurologica.

Desidero ringraziare di cuore tutti i colleghi, gli amici e i collaboratori che hanno condiviso con me questo percorso.

Inizia una nuova sfida, che affronto con grande entusiasmo.

Università di Pisa AOUP Azienda Ospedaliero Universitaria Pisana AOUP

https://www.ean.org/home/organisation/meet-the-board

Meet the EAN Board members - the individuals who devote their time to the development of EAN, engaging daily in the management of the society, organising meetings, research projects and educational programmes, and much more. They are dedicated to making EAN the home of neurology for all neurologists...

20/07/2026

📆 Save the date 📆

🧬 1-3 ottobre 2027: la sedicesima edizione della sta arrivando!

20/07/2026

Nature Reviews Neurology: Huntington disease is a neurodegenerative disorder caused by pathological expansion of the huntingtin (HTT) gene, and no disease-modifying therapies are currently available. This News & Views article examines two new studies which demonstrate different genetic approaches to targeting the toxic Htt transcript Htt1a in knockin mouse models of Huntington disease, which might inform future strategies to lower mutant HTT in humans.

Link to the News & Views article in the comments.

15/06/2026

oin us at EAN Congress 2026 in Geneva!
I am pleased to be co-chairing the EAN/ERN-RND Topical Symposium: "Rare Movement Disorders Not to Miss: Red Flags", taking place on Monday, 29 June 2026, from 15:30–17:00 CEST in Room Budapest.
Rare movement disorders frequently present with overlapping clinical features, making diagnosis challenging and often delaying appropriate treatment. This symposium will focus on identifying the critical clinical "red flags" that help distinguish rare, potentially treatable conditions from more common neurodegenerative disorders.
Together with an outstanding faculty, we will discuss:
✔️ Lysosomal movement disorders
✔️ Autoimmune and paraneoplastic movement disorders
✔️ Mitochondrial movement disorders
✔️ Toxic and acquired metabolic movement disorders
I am delighted to co-chair this session with Bettina Balint (Zurich) and to welcome presentations from Elisabetta Indelicato (Innsbruck), Bettina Balint (Zurich), João Durães (Coimbra), and myself.
Whether you are a neurologist, trainee, movement disorder specialist, or researcher, this session will provide practical insights into the early recognition and management of rare movement disorders, with a strong focus on conditions where timely diagnosis can make a significant difference for patients.
Looking forward to seeing colleagues and friends in Geneva!

hashtag hashtag hashtag hashtag hashtag hashtag hashtag hashtag hashtag

🔵 Join us at EAN Congress 2026 in Geneva! I am pleased to be co-chairing the EAN/ERN-RND Topical Symposium: "Rare Movement Disorders Not to Miss: Red Flags", taking place on Monday, 29 June 2026, from 15:30–17:00 CEST in Room Budapest. Rare movement disorders frequently present with overlapping...

01/06/2026

New E-MIT Board Elected at Euromit 2026 in Angers 🌟
During the General Assembly of E-MIT, held at in Angers, members elected the new Board that will guide the association in its next chapter.
Congratulations to the newly elected Board members:
🔹 President – Kostas Tokatlidis
🔹 Secretary – Caterina Garone
🔹 Treasurer – Michelangelo Mancuso
🔹 Senior Member – Julio Montoya
🔹 Junior Members – Danielle Brister and Piervito Lopriore
🔹 Ordinary Members – Erika Fernandez-Vizarra Bailey, Olivier Baris, Rob Taylor, Agnieszka Chacinska, and Shamima Rahman
I would like to thank all members for their trust and support. It is an honor to serve as Treasurer of E-MIT and to work alongside such an outstanding team of scientists and professionals dedicated to advancing mitochondrial research, collaboration, and education across Europe and beyond.
Wishing the new Board a successful and productive mandate. Together, we look forward to strengthening our community and supporting the next generation of researchers.

09/05/2026

E-mit Executive Board Election

E-mit Executive Board Election​ European Society for Mitochondrial Research and Medicine Call for Nominations – E-mit Executive Board Election Dear E-mit Member, In accordance with Article 5 of the E-mit Charter, we are pleased to open the call for nominations for the E-mit Executive Board. Posi...