Preliminary Program

 

Wednesday 9 February (CET, GMT+1)

15h45 Introduction - Emilio Fernández-Alvarez and Nardo Nardocci

 

Session 1: Opening talks

Chairs : TBC

16h00-16h25 : Lecture 1: Is phenomenology still important in the era of exome and genome sequencing? - Jonathan Mink (Rochester USA)

16h30-16h55 : Lecture 2: Future challenges on epilepsy and movement disorders - Alexis Arzimanoglou (Lyon, France)

17h00-17h30 Discussion

 

17h30-18h00 Video / Short communication session 1

Chairs : TBC

17h30-17h45 : Movement disorder in NGLY1-congential disorder of deglycosylation - Katherine Mackenzie (Palo Alto, USA)

17h45-18h00 Pending

 

18h00-18h30 Coffee Break

 

Session 2 : New insights into the characterization of clinical syndromes (1)

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

19h00 – 19h25 Lecture 4: Functional movement disorders - Nardo Nardocci (Milan, Italy)

19h30 – 20h00 Discussion

 

Thursday  February 10th, 2022

7h45 – 8h45 : Industry sponsored working breakfast – PTC Therapeutics

Session 3 New insights into the characterization of clinical syndromes (2)
Chairs : TBC

8h45 – 9h10 : Lecture 5: Benign polymorphous paroxysmal movement 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)

9h45-10h10 : Lecture 7: Childhood onset chorea : an overview of genetic etiologies about a serie of 85 french children - Diane Doummar (Paris, France)

10h15 – 10h45 Discussion

 

10h45 – 11h15 Coffee Break

 

11h15-11h45 Video / Short communication Session 2 
Chairs : TBC

11h15 - 11h30 : Insights in disease mechanisms and potential therapeutic option in Ataxia Telangiectasia - Michel Willemsen (Nijmegen, The Netherlands)

11h30 - 11h45 : Phenomenological patterns with multiple ‘parents’.> A short observational study - Jean Pierre Lin (London, UK)

 

Session 4: Recent advances in genetic neurodevelopmental diseases with abnormal movements (1): GNAO1 Session

Chairs: Jennifer Friedman (US)

11h45 – 12h10 Lecture 8 Mechanistic role of GNAO1 in striatal control of movements - Kirill A Martemyanov Jupiter USA

12h15-12h40 Lecture 9 Movement disorders in GNAO1 defect - Vincenzo Leuzzi (Rome, Italy)

12h45-13h10 Lecture 10 Deep brain stimulation in GNAO1-related neurodevelopmental disorder - Dario Ortigoza-Escobar (Barcelona, Spain)

13h15-13h45 Discussion

13h45 – 14h35 Lunch & Posters

 

14h35 – 15h05 Video/ short communication session-3
Chairs : TBC

14h35-14h50 : Pending

14h50-15h05 : Exome sequencing in dystonia - single-gene disorders and clinical implications - Michael Zech (Munchen, Germany)

 

Session 5: Recent advances in genetic neurodevelopmental diseases with abnormal movements 

Chairs : TBC

15h10-15h35 : Lecture 11 : HOPSAND spectrum (HOPS-associated neurological disorders VPS41/VPS16/VPS11 - Manju Kurian (London, UK)

15h40-16h05 : Lecture 12 ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria - Renzo Guerrini (Firenze,Italy)

16h10- 16h35 : Lecture 13 : Clinical characterization of genetic disorders of the glutamatergic synapse: hyperfunction versus hypofunction - Angels Garcia- Cazorla (Barcelona, Spain)

16h40-17h10 Discussion

 

17h10 – 18h25 Video /short communication session-4
Chairs : TBC

17h10 -17h25 : Stem cell modelling of Tyrosine hydroxylase deficiency recapitulates disease phenotypes and patient-specific drug response - Alba Tristan-Noguero (Barcelona, Spain)

17h25-17h40 Effects of deep brain stimulation in pediatric patients with dyskinetic cerebral palsy - a prospective multicenter trial - Anne Koy (Cologne  Germany)

17h40 – 17h55 Genetic treatment of AADC - Hoo (Taipeh, Taiwan)

17h55 – 18h10 Non-motor effects of neurotransmitter replacement therapy in secondary biogenic amine deficiency - Gabielle Horvath (Vancouver, Canada)

18h00-18h25 Functional tic-like movements in adolescent females - Tammy Heddderly (London, UK)

 

Friday February 11th, 2022


7h45 – 8h45 : Industry sponsored working breakfast

Session 6 : Autoimmune spectrum

Chairs: Pending

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

9h15-9h40 Lecture 15 Psychiatric and motor manifestations in autoimmune encephalitis - Tiziana Granata (Milan, Italy)

10h15-10h45  Discussion

 

10h45 – 11h15 Coffee Break

 

Session 7: Therapeutics

Chairs: TBC

11h15-11h40 : Lecture 16 : Outcomes of gene therapy in pediatric movement disorders - Toni Pearson (USA)

11h45-12h10 : Lecture 17 : Long term outcome of functional neurosurgery for pediatric progressive dystonia: the Besta case series - Giovanna Zorzi (Milan,Italy)

12h15-13h10 : Lecture 18 : Focal Ultrasound: An expanding approach to treat neurometabolic disorders - José Obeso (Madrid, Spain)

13h15-13h45 Discussion

 

13h45 Closing ceremony – Russell Dale & Manju Kurian

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