Preliminary Program

 

 

Wednesday 9 February (CET, GMT+1)

 

14h30: Introduction - Emilio Fernández-Alvarez and Nardo Nardocci

 

14h45-16h10 Session 1: Opening talks

14h45-15h25: Robert Surtees Lecture 1: Is phenomenology still important in the era of exome and genome sequencing? - Jonathan Mink (Rochester USA)

15h25-16h10: Lecture 2: Future challenges on epilepsy and movement disorders - Alexis Arzimanoglou (Lyon, France)

 

16h15-18h00 Video / Short communication session 1

16h15-16h30: video - STXBP1 stop-loss mutation associated with complex early onset movement disorder without epilepsy - Robert Spaull (London, UK

16h30-16h45: video - Lesch–Nyhan syndrome and self-injurious behavior : an under-estimated indication ?  Interest of multi target DBS in young children – Nathalie Dorison (Paris, France)

16:45-17:00: video - KCNN2-related early onset tremor - Federica Rachele Danti (Milano, Italy)

17:00-17:15: video - Improvement of movement disorder and neurodevelopment under selegiline in a CLTC deficient patient - Francesca Nardecchia (Rome, Italy)

17:15-17:30: video - New onset action-induced facial tremor in an adolescent with a psychoactive polytherapy – Giulia Galati (Verona, Italy)

17:30-17:45: video - De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus – Serena Galosi (Rome, Italy) 

17:45-18:00: video - Clonidine in childhood dystonia : a monocentric retrospective study – Marie Hully (Paris, France)

 

18h00-18h30: Coffee Break

 

18h30-19h50 Session 2: New insights into the characterization of clinical syndromes (1)

18h30 – 18h55: Lecture 3: Genetics mimics in cerebral palsy - Michael Kruer (Phoenix USA)

18h55 – 19h20: Lecture 4: Functional movement disorders - Nardo Nardocci (Milan, Italy)

19h20 – 19h50 Discussion

 

 

Thursday February 10th, 2022



7h45 – 8h45: Industry sponsored working breakfast

 

8h50-10h35: Session 3 New insights into the characterization of clinical syndromes (2)
 

8h50 – 9h15: Lecture 5: Non epileptic paroxysmal movements of infancy - Emilio Fernandez-Alvarez (Barcelona, Spain)  

9h15 – 9h40: Lecture 6: Hypokinetic movement disorders and parkinsonism in infancy and early childhood - Roser Pons (Athens, Greece)

9h40-10h05: Lecture 7: Childhood onset chorea: an overview of genetic etiologies about a serie of 85 french children - Diane Doummar (Paris, France)

10h05– 10h35: Discussion

 

10h35 – 11h05: Coffee Break

 

11h05-11h35:  Short communications Session 2 


11h05 - 11h20: Insights in disease mechanisms and potential therapeutic option in Ataxia Telangiectasia - Michel Willemsen (Nijmegen, The Netherlands)

11h20 - 11h35: Phenomenological patterns with multiple ‘parents’.> A short observational study - Jean Pierre Lin (London, UK)

 

11h40-13h25: Session 4: Recent advances in genetic neurodevelopmental diseases with abnormal movements (1): GNAO1 Session

11h40 – 12h05 Lecture 8 Mechanistic role of GNAO1 in striatal control of movements - Kirill A Martemyanov (Jupiter, USA)

12h05-12h30 Lecture 9 Movement disorders in GNAO1 defect - Vincenzo Leuzzi (Rome, Italy)

12h30-12h55 Lecture 10 Deep brain stimulation in GNAO1-related neurodevelopmental disorder - Dario Ortigoza-Escobar (Barcelona, Spain)

12h55-13h25: Discussion

 

13h25 – 14h30 Lunch & Posters

 

14h30 – 15h05 Video session-3

14h30-14h45:  Childhood intense imagery movements as a precursor to maladaptive daydreaming – Tammy Hedderly & Tamsin Owen (London, UK)

14h45-15h00:  Hypokinetic syndrome and head tremor as presenting features of the Hoyeraal-Hreidarsson syndrome: an unusual isolated neurological phenotype – Giacomo Garone (Rome, Italy)

 

15h05-16h50 Session 5: Recent advances in genetic neurodevelopmental diseases with abnormal movements 

15h05-15h30: Lecture 11: HOPSAND spectrum (HOPS-associated neurological disorders VPS41/VPS16/VPS11 - Manju Kurian (London, UK)

15h30-15h55: Lecture 12: Clinical characterization of genetic disorders of the glutamatergic synapse: hyperfunction versus hypofunction - Angels Garcia- Cazorla (Barcelona, Spain)

15h55-16h20: Lecture 13: ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria - Renzo Guerrini (Firenze,Italy)

16h20-16h50 Discussion

 

16h55 – 18h25 Short communication session-4

16h55-17h10: Stem cell modelling of Tyrosine hydroxylase deficiency recapitulates disease phenotypes and patient-specific drug response - Alba Tristan-Noguero (Barcelona, Spain)

17h10-17h25 Effects of deep brain stimulation in pediatric patients with dyskinetic cerebral palsy - a prospective multicenter trial - Anne Koy (Cologne, Germany)

17h25-17h40: Non-motor effects of neurotransmitter replacement therapy in secondary biogenic amine deficiency - Gabielle Horvath (Vancouver, Canada)

17h40-17h55 Functional tic-like movements in adolescent females - Tammy Heddderly (London, UK)

17h55-18h10: Exome sequencing in dystonia - single-gene disorders and clinical implications - Michael Zech (Munchen, Germany)

18h10-18h25: Early-onset movement disorders in MCT8 deficiency: An expression analysis – Nina-Maria Wilpert (Berlin, Germany)

 

 

 

Friday February 11th, 2022

 

Session 6: Autoimmune spectrum

8h45-9h10 Lecture 14 Immune-brain interactions and epigenetic risk factors of tic disorders in childhood - Russell Dale (Sydney, Australia)

9h10-9h35 Lecture 15 Psychiatric and motor manifestations in autoimmune encephalitis - Tiziana Granata (Milan, Italy)

9h35-10h05: Discussion

 

10h05 – 10h35: Coffee Break

 

10h35-11h50: Session 7: Therapeutics

10h35-11h00: Lecture 16: Focal Ultrasound: An expanding approach to treat neurometabolic disorders - José Obeso (Madrid, Spain)

11h00-11h25: Lecture 17: Long term outcome of functional neurosurgery for pediatric progressive dystonia: the Besta case series - Giovanna Zorzi (Milan,Italy)

11h25-11h50: Lecture 18: Outcomes of gene therapy in pediatric movement disorders - Toni Pearson (USA)

 

11h55-13h30 Video /short communication session-5

11h55-12h10: Long-term efficacy and safety of eladocagene Exuparvovec in patients with AADC deficiency - Paul Wuh-Liang Hwu  (Taipei, Taiwan)

12h10-12h25: Intracerebral gene therapy in 2 patients with aromatic-L acid decarboxylase  (AADC) deficiency – Agathe Roubertie (Montpellier, France)

12h25-12h50: New genes in paroxysmal movement disorders - Jolanda Shieving (Nijmegen, The Netherlands)

12h50-13h05: Intrafamilial phenotypical variability of ANO3 mutations – Esra Serdaroglu (Ankara, Turkey)

13h05-13h20: Movement disorder in NGLY1-congenital disorder of deglycosylation - Katherine Mackenzie (Palo Alto, USA)

 

13h30: Closing ceremony – Russell Dale & Manju Kurian

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