2023 International Congress » Rare Genetic and Metabolic Diseases

A juvenile onset Sandhoff disease case caused by hemizygous mutations of HEXB

JH. Yin (Beijing, China)

A novel truncating variant in UBAP1 gene causing hereditary spastic paraplegia type 80

S. Koya Kutty, MN. Zainal Anuar, SA. Abu Hassan, FM. Magrinelli, KB. Bhatia (Kuantan, Malaysia)

A Peruvian family with neurodegeneration with ataxia, dystonia and gaze palsy, childhood-onset (NADGP): A case report

E. Sarapura-Castro, C. Chacaltana-Viñas, P. Ramirez-Pajares, A. Manrique-Palomino, A. Clause, A. Chawla, A. Rivera-Valdivia, J. Bazalar-Montoya, K. Milla-Neyra, E. Thorpe, M. Cornejo-Olivas (Lima, Peru)

Acute-onset parkinsonism secondary to bilateral extrapontine myelinolysis of the basal ganglia: case report

N. Sarhan (Zagazig, Egypt)

Adult onset cerebrotendinous xanthomatosis (CTX) with parkinsonism responding to bilateral subthalamic nucleus deep brain stimulation

R. Tilney, N. Dingli, E. Said, L. Zrinzo, J. Aquilina (London, United Kingdom)

Adult onset neuronal Intranuclear Inclusion Disease (NIID) which initially presented with gait imbalance and fall

E. Oh, S. Lee (Daejeon, Republic of Korea)

Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile

E. Fernandez, P. Meza, P. Saffie (Concepción, Chile)

Can very early levodopa prevent self-injury in Lesch-Nyhan Disease?

J. Visser, O. Chorin, H. Jinnah (Nijmegen, Netherlands)

Cerebellar ataxia in Hypomyelinating Leukodystrophies: A case series

J. Ganguly, J. Sinha, P. Basu, M. Tiwari, H. Kumar (Kolkata, India)

Conventional anti-epileptic drugs used in North Sea Progressive Myoclonus Epilepsy revisited in a Drosophila model

S. Polet, R. Lambrechts, M. de Koning-Tijssen, O. Sibon, T. de Koning, J. Gorter (Groningen, Netherlands)

Correlation between neurological phenotype, neuroimaging and clinical outcome in a single centre Wilson disease cohort.

J. Moura, C. Pinto, P. Freixo, C. Ramos, E. Silva, F. Nery, J. Gandara, V. Lopes, S. Ferreira, J. Presa, J. Castro Ferreira, H. Pessegueiro, M. Magalhães (Porto, Portugal)

D-penicillamine induced myasthenia gravis – the possible complication of Wilson’s disease treatment.

A. Antos, T. Litwin, J. Bembenek, M. Skowrońska, I. Kurkowska-Jastrzębska, A. Członkowska (Warsaw, Poland)

Detailed illustration of a Turkish patient with homozygous C19ORF12 mutation

H. Onder, T. Comoglu, S. Comoglu (Ankara, Turkey)

Diagnostic challenges in a case of SLC6A3-related Dopamine Transporter Deficiency Syndrome

L. Jafri, J. Martindale (Winston Salem, USA)

DNAJC12 defect a new neurodevelopmental disorder associated with parkinsonism-dystonia

F. Manti, G. Ricciardi, L. Pollini, C. Artiola, C. Carducci, MT. Carbone, D. Mei, F. Porta, A. Burlina, R. Guerrini, V. Leuzzi (Roma, Italy)

Dystonia as presenting feature of Witteveen-kolk Syndrome

F. Mustafa, K. Sai Krishna, D. Vibha, R K. Singh, M. Tripati, A. Elavarsi, S. Gaikwad, B. Mishra (NEW DELHI, India)

First Report of ERCC1-Associated Adult-Onset Hepatocellular Carcinoma, Ataxia, and Cognitive Decline

S. Radmard (Albany, USA)

Free water neuro-imaging changes as the biomarker in new diagnosis of Wilson’s disease

XP. Wang, XZ. Jing (Shanghai, China)

From foot to head: look after your socks !

A. Riou, L. Pasquier (Rennes, France)

Generalized dystonia and spasticity: The fault in the mitochondria

A. Saini, S. Khanna (Chandigarh, India)

How COVID-19 Impacted Patients with Wilson’s disease? A Questionnaire-based Study From An Indian Movement Disorder Clinic

A K. Shrivastava, A. Aliyar, MR. Divya, F. Mustafa, K. Sai Krishna, R. Rajan, K. Soman Pillai ()

Huntingtonism and bilateral basal ganglia hypointensity in a male with an XK variant but no McLeod red cell phenotype

J. Yu, R. Walker, A. Danek, C. Westhoff, S. Vege, I. Itin (Cleveland, USA)

Idiopathic Intracranial Hypertension as the presenting symptom in Wilson’s Disease: how is it possible?

V. Mesquita, F. Rolim, A. Gomes, R. Carvalho, P. Matos, A. Marinho, N. Frota, F. Carvalho (Fortaleza, Brazil)

Impaired Nt-acetylation and the Golgi, a new disease mechanism leading to autosomal recessive primary familial brain calcifications

V. Chelban, H. Aksnes, L. Lamonica, R. Maroofian, L. Seabra, P. Devic, J. Vandrovcova, D. Murphy, A. Pagnamenta, N. Wood, R. Horvath, A. Ernst, J. Rothman, M. Mcentagart, Y. Crow, G. Nicolas, T. Arnesen, H. Houlden (London, United Kingdom)

Late-onset cerebellar ataxia revealing a Pantothenate-kinase-associated neurodegeneration

S. Laroussi, S. Sakka, S. Daoud, N. Bouattour, K. Moalla, N. Farhat, M. Damak, C. Mhiri (Sfax, Tunisia)

Minimum clinically important difference (MCID) on the Unified Wilson Disease Rating Scale (UWDRS) Part III: results from the Phase 3 FoCus Trial

T. Litwin, A. Czlonkowska, P. Hedera, J. Bronstein, M. Lorincz, M. Møller, G. Wegmann, G. Carron, A. Messali, A. Poujois (Warsaw, Poland)

Movement disorders spectrum in CTNNB1-related neurodevelopmental disorders

G. Garone, M. Grasso, L. Travaglini, MC. Digilio, A. Capuano, F. Nicita, G. Della Bella, D. Diodato, L. Chioma, A. Mandarino, L. Sinibaldi (Rome, Italy)

Neurodegeneration with Brain Iron Accumulation: A case series from a single center in India

A. Agarwal, D. Garg, D. Radhakrishnan, R. Rajan, A. Garg, A. Srivastava (New Delhi, India)

Neurological symptom severity in Wilson disease is associated with increased white matter mean diffusivity

A. Hausmann, S. Kannenberg, C. Hartmann, J. Caspers, C. Rubbert, A. Schnitzler (Duesseldorf, Germany)

Non classified SCA-like presentation of GEMIN5 + GYG-1 mutation. Case report

A. Escalante Mercado, G. Calderon Paiva, J. Medina Suárez, P. Gonzales Romero, W. Trillo Alvarez, J. Calderon Paiva, P. Bermejo Rosado, A. Aquino Toledo, L. Chavez Torreblanca (Arequipa, Peru)

POLR3A-Related Disorders and Response to Deep Brain Stimulation

WY. Yau, C. Ashton, E. Mulroy, T. Foltynie, P. Limousine, J. Vandrovcova, R. Stell, M. Davis, P. Lamont (Perth, Australia)

Potential treatment for CMT2S caused by IGHMBP2 cryptic splice variant, with ASO based therapeutic

S. Smieszek, C. Tyner, A. Kaden, C. Johnson, C. Polymeropoulos, G. Birznieks, M. Polymeropoulos (Washington, USA)

Prevalence of seizures in patients with Neurodegeneration with Brain Iron Accumulation

D. Kalikavil Puthanveedu, A. Cherian (Thiruvananthapuram, India)

Progressive myoclonus ataxia and resting tremor in hypoceruloplasminemia

L. Pollini, M. Novelli, F. Nardecchia, K. Bernardi, E. Colacino, F. Pisani, V. Leuzzi, S. Galosi (Rome, Italy)

Quasi tandem repeat in TCERG1 may influence age at onset of X-linked dystonia-parkinsonism

S M. Algodon, B-H. Laabs, R. Rosales, R D. Jamora, C C. Diesta, G. Saranza, T. Fischer, M. Brand, H. Pawlack, N. Brüggemann, V. Dobricic, C. Klein, A. Westenberger (Lübeck, Germany)

RNF216–associated neurodegeneration: Is it a new NBIA disorder?

NS. Sriram (Banglore, India)

Severe parkinsonism late-onset in Wilson’s disease without typical basal ganglia involvement

J. Li, K-F. Li, J. Ge, H-Z. Chen, W-M. Yang (Hefei, China)

Slow progressive neurocognitive impairment with Parkinsonism: A rare, adult-onset Neuronal Intranuclear Inclusion disease (NIID) case report

AS. Mawardi, AA. Ab Ghapar, NH. Rahim, J. Joseph (Kuala Lumpur, Malaysia)

The neurological manifestations of PHARC syndrome: a systematic review

V. Mendes Ferreira, M. Magriço, P. Bugalho, B. Meira, R. Barbosa (Lisboa, Portugal)

Therapeutic Plasma Exchange in the Management and Outcome of Stiff-Person Syndrome: A Systematic Review

SK. Kharel, SS. Shrestha, SA. Acharya (Kathmandu, Nepal)

Unusual Neuronal Intranuclear Inclusion Disease (NIID) with initial presentation mimicking recurrent Transient Global Amnesia (TGA)

S. Kim, WT. Yoon (Seoul, Republic of Korea)

Wilson disease: a single-center study from Tunisia

R. Zouari, R. Amouri, I. Ben Kraiem, MZ. Saeid, F. Nabli, S. Ben Sassi (Tunis, Tunisia)