2024 International Congress » Genetics (Non-PD)

A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification

X. Chen, Y. Shi, F. Fu, L. Wang, D. Yang, X. Wang, C. Ying, H. Wang, Z. Lin, H. Wang, F. Zhang, X. Zheng, Y. Guo, Y. Wang, Y. Zeng, M. Zhao, Y. Chen, J. Li, H. Xia, J. Chen, B. Wang, S. Wu, F. Xie, J. Feng, Z. Cen, W. Luo (Hangzhou, China)

A novel G413S mutation in the CSF1R gene causes Hereditary Diffuse Leucoencephalopathy with axonal Spheroids; clinically overlapping features of Parkinsonism

ANW. Ullah, MZB. Badshah (Peshawar, Nepal)

A Novel SLC9A1 Mutation Associated with Cerebellar Ataxia and Sensorineural Hearing Loss

S. Dharmadhikari, Y. Kianirad (Chicago, USA)

ATP1A3-related disorder overlapping syndrome: a case report

A. Santana, A. Azzoni, M. Sakuma, C. Gusmão (São Paulo, Brazil)

Bi-allelic BORCS5 Variants Result In A Wide Spectrum of Progressive Neurodevelopmental Disorders via Lysosomal Dysfunction

NE. Mencacci, G. Minakaki, R. Maroofian, R. de Pace, F. Magrinelli, S. Eldessouky, WJ. Peng, B. Doan, J. Baptista, T. Marton, J. Vogt, JD. Ortigoza-Escobar, L. Martorell, EJ. Kamsteeg, A. Mahmoud, A. Scardamaglia, MS. Zaki, G. Zifarelli, Z. Alhassnan, NW. Wood, M. Schwake, J. Bonifacino, H. Houlden, KP. Bhatia, D. Krainc (Chicago, USA)

Clinico- radiological profile of four patients with CSF1R- related leukoencephalopathy: A case series from India

R S. Harishma, N. Kamble, P. Pal, V V. Holla, R. Yadav, S. Prasad (Bengaluru, India)

Complex Movement Disorders in Late Onset TPP1 Gene Mutation (Atypical Neuronal Ceroid Lipofuscinosis Type 2)

M. Soares, T. Coradine, P. Fraiman, V. Procaci, T. Silva, O. Barsottini, J. Pedroso (São Paulo, Brazil)

Expanding the Neurogenetic Spectrum: A Case of DEPDC5 Mutation Presenting with Unilateral Tremor and Cognitive Decline

B. Center, Z. Cheng (Maywood, USA)

Expanding the phenotypic spectrum of movement disorders in 22q11.2 deletion syndrome

N. Reyes, T. Cortez-Grippe, M. Callister, T. Heung, A. Bassett, A. Lang (Toronto, Canada)

Genetic Heterogeneity in Chorea-Acanthocytosis Revealed by Varying VPS13A Mutations Within a Consanguineous Family

S. Alatrash, F. Farook, D. Nicholl (Newcastle-Under-Lyme, United Kingdom)

Global presence and penetrance of CSF1R-Related disorder

J. Dulski, M. Baker, S. Banks, M. Bayat, R. Bruffaerts, T. Chmiela, G. Cruz, C. Disserol, K. Fisher, N. Jainy, B. Kálmán, O. Kantarci, D. Maltsev, C. Middleton, G. Novotni, D. Plaseska-Karanfilska, S. Raskin, J. Souza, H. Teive, Z. Wszolek (Jacksonville, USA)

Identification and Screening of Candidate Genes for Paroxysmal Movement Disorders by Next Generation Sequencing Approach for Developing Molecular Diagnostics.

P. S, R. Sampath, P. L K, V. Gowda, A. Kolandaswamy (Bangalore, India)

Identification of Compound Heterozygous and Novel Deep-Intronic TH Mutations in a Chinese Patient with Dopa-Responsive Dystonia

XS. Zheng (Hangzhou, China)

Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic

D. Penn, Y. Amir, G. Ben David, J. Zitser Koren, G. Gurevich, H. Baris Feldman, R. Alcalay, Y. Yaron, P. Ponger (Tel Aviv, Israel)

Intermediate Expansion of MARCHF6 causes FAME3 without Epilepsy

C. Del Gamba, E. Bieth, S. Kaya, E. Leitão, K. Astudillo, S. Frucht, C. Depienne, G. Riboldi (New York City, USA)

New Pathological Findings in an International Cohort of Hereditary Spastic Paraplegia 4 Patients

A. Orlacchio, A. Meyyazhagan, P. Eusebi, P. Basavaraju, H. Kuchi Bhotla, M. Stasi, G. Ribas, I. Faber, R. Miyamoto, M. Miele, R. Massa, P. Patti, M. França Jr, J. Pedroso, O. Barsottini, H. Teive, T. Kawarai, E. Panza (Perugia, Italy)

OPTN gene associated with corticobasal syndrome: a novel multi-exon deletion and literature review

G. Bonato, M. Ginevrino, B. Savini, D. Ciprietti, P. Santurelli, E. Gasparoli, C. Gabelli, G. Sorarù, R. Biundo, M. Carecchio, A. Guerra, L. Salviati, A. Antonini (Padova, Italy)

Parkinsonism in combined Fragile X and XYY Syndromes: A Case Report

M. Carta, B. Balint (Zurich, Switzerland)

Phenotypic Variability of PRNP and Related Movement Disorders

M. Tuesta Bernaola, J. Ganguly, M. Jog (London, Canada)

Three-Year Progression of the Postural Control Alterations in Hereditary Spastic Paraplegias

D. Cubillos-Arcila, V. Feijó Martins, A. Ivaniski-Mello, G. Dariva Machado, V. Bielefeldt Leotti, L. Peyré-Tartaruga, J. Morales Saute (Porto Alegre, Brazil)

Utility of Whole Exome Sequencing in movement disorders potentially related to Mitochondrial cytopathies

D. Dhar, V. Holla, P. Phulpagar, R. Yadav, N. Netravathi, B. Muthusamy, P. Pal (Bangalore, India)

Validation of Inertial Measurement Units and an application compared with the reference system to assess the gait in hereditary spastic paraplegia

D. Cubillos-Arcila, A. Ivaniski-Mello, E. de Borba, L. Peyré-Tartaruga, J. Morales Saute (Porto Alegre, Brazil)