2022 International Congress » Rare Genetic and Metabolic Diseases

A bitter syndrome as a cause of refractory movement disorders

DD. García-Meléndez, F. Muñoz Escudero, MI. Morales-Casado, P. Lobato Casado, AM. Diezma Martín, G. Tabar Comellas, N. Sánchez Cano, B. Canovas Gaillemin, N. López Ariztegui (Toledo, Spain)

A Novel Mutation of GCH1 Gene in a Case of Dopa-responsive Dystonia with Oculogyric Crises

T. Kim, D. Yoo, TB. Ahn (Seoul, Republic of Korea)

Adult-onset Alexander’s disease – New causal mutation in GFAP gene

T. Goerttler, L. Zanetti, M. Regoni, K. Egger, E. Kellner, C. Deuschl, C. Kleinschnitz, J. Sassone, S. Klebe (Essen, Germany)

BBP-671, AN INVESTIGATIONAL MODULATOR OF PANTOTHENATE KINASES, DEMONSTRATES PROOF OF CONCEPT IN A PKAN MOUSE MODEL AND TARGET ENGAGEMENT IN HUMANS

D. Gretler, A. Jurecka, R. Sukhun, C. Henry, A. Wade, M. Harden, C. Subramanian, M. Frank, R. Lee, C. Rock, S. Jackowski, S. Rao, U. Sinha (San Francisco, USA)

Belly Dance Dyskinesia, a manifestation of B12 deficiency and hyperhomocysteinuria in MTHFR gene mutation. Videographic record of a case.

D. López Domínguez, B. Solano Vila, A. Cots Foraster (Girona, Spain)

BRAT1 associated neurodegeneration and review of literature

V. Cerino Palomino, T. Ortegano Briones, D. Tristán Samaniego, C. Zepeda Salazar, C. Torres Vázquez, R. Abundes Corona, G. Cervantes Arriaga, M. Rodríguez Violante (Mexico City, Mexico)

Clinical, imaging and genetic profile of patients with NBIA spectrum disorders

N. Sriram, P. Pal, V. Holla, N. Kamble, J. Saini, R. Yadav, RAJ. Battu, VY. K N, B. Muthusamy, RI. Kumari (Bangalore, India)

Clinical,imaging and genetic correlations in a Neuronal Brain Iron accumulation cohort from India

K P. Divya, A. Cherian, M. Chandarana, S. Krishnan (Thiruvananthapuram, India)

Conservative iron chelation for Neuroferritinopathy

F. Marchand, C. Moreau, G. Kuchcinski, V. Huin, L. Defebvre, D. Devos (LILLE, France)

Correlations between cognitive impairments and brain abnormalities in Wilson disease: a systematic review

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

Deterioration in Wilson’s Disease despite treatment. Are the neuroimaging findings useful as prognostic factor?

E. Urrea-Mendoza, S. Zaheer, F. Revilla (Greenville, USA)

DHDDS and NUS1: A converging pathway and common phenotype

L. Williams, J. Qiu, S. Waller, N. Elserafy, M. Tchan, P. Procopis, H. Sampaio, S. Mohammad, H. Morales-Briceño, V. Fung (Sydney, Australia)

Evaluation of hyperintense globus pallidus rim sign in seven-tesla MRI as a diagnostic biomarker in Wilson’s disease

D. Su, Z. Zhang, Z. Zhang, T. Wu, J. Jing, T. Feng (Beijing, China)

Gene Expression Quantification to Assess Frataxin Replacement Therapies in Friedreich’s Ataxia

M. Baile, D. Schecter, A. Miller, T. Galas, N. Scherer, R. Chen, N. Ruiz, D. Bettoun (Philadelphia, USA)

Gerstmann-Sträussler-Scheinker disease presenting as dystonia

J. Kim (Busan, Republic of Korea)

Gerstmann-Straussler-Scheinker Syndrome Manifesting Levodopa-Responsive Parkinsonism, Levodopa-Induced Dyskinesia, and Abnormal DaT-SPECT

S. Aradi (Tampa, USA)

GNAO1 related disorders: a clinical, genetic, and therapeutic update

M. Novelli, S. Galosi, G. Zorzi, T. Granata, F. Nardecchia, M. Di Rocco, S. Martinelli, N. Nardocci, V. Leuzzi (Rome, Italy)

Identification of two novel patients with VPS13D-related disease and characterization of a +3 splice site variant

M. Pauly, N. Brüggemann, S. Efthymiou, H. Houlden, V. Chelban, F. Hinrichs, V. Tadic, A. Münchau, K. Lohmann (Lübeck, Germany)

Milder presentation in two compound heterozygote cases of spastic paraplegias type 5

A. Zolin, S. Lakhani, H. Sarva (New York, USA)

Movement Disorders Associated With Vitamin B12 Deficiency: A Case Series

R. Zouari, L. Hlioui, F. Nabli, MZ. Saeid, C. Jeridi, S. Blel, S. Ben Sassi (tunis, Tunisia)

Neuroimaging correlates of cognitive deficits in Wilson’s disease

S. Shribman, M. Burrows, R. Convery, M. Bocchetta, C. Sudre, J. Acosta-Cabronero, D. Thomas, G. Gillett, E. Tsochatzis, O. Bandmann, J. Rohrer, T. Warner (London, United Kingdom)

Paroxysmal dystonia with phenotypic variability in ECHS1 mutation twin carriers

G. Bonato, M. Nosadini, S. Andretta, A. Suppiej, A. Leon, S. Sartori, M. Carecchio (Padua, Italy)

Paroxysmal Musician’s Dyskinesia

J. Hislop, D. Shpiner, J. Margolesky (Miami, USA)

Surgical outcomes in Rare Movement Disorders: A report of seventeen patients from India

VV. Holla, D. Dhar, N. Kamble, R. Yadav, D. Srinivas, PK. Pal (Bengaluru, India)

Symptomatic brain calcifications in two patients with JAM2 monoallelic variants.

S. Andretta, G. Bonato, M. Mainardi, L. Salviati, A. Antonini, M. Carecchio (Padova, Italy)

The Correlation Analyses of Parkinson’s Disease with Serum Homocysteine, Folic Acid and Vitamin B12

YP. Chen, Y. Qu, JT. Li, Z. Min, YJ. Xiong, Z. Xue (Wuhan, China)

The development of a screening tool to identify movement disorders in patients with inborn errors of metabolism

L. Koens, M. Klamer, D. Sival, B. Balint, K. Bhatia, M. Contarino, M. van Egmond, R. Erro, J. Friedman, V. Fung, C. Ganos, M. Kurian, A. Lang, E. Mcgovern, E. Roze, T. de Koning, M. Tijssen (Groningen, Netherlands)