2023 International Congress » Genetics (Non-PD)

Clinical and genetic characteristics of a cohort of 20 patients with confirmed biallelic pathogenic SPG7 mutations from the North West of England

R. Heartshorne, J. Proudfoot-Jones, A. Barakat, M. Bonello (Liverpool, United Kingdom)

Combined GWAS of Dementia with Lewy Bodies, REM-Sleep Behavior Disorder, Parkinson’s Disease and Alzheimer’s Disease

P. Saini, E. Yu, L. Krohn, Z. Gan-Or (Montreal, Canada)

Exome sequencing of 584 Chinese proband with brain calcification

ZR. Lin (Hangzhou, China)

FRMD5 de novo variants in two cases with childhood onset ataxia and seizures

I. Keller Sarmiento, J. Blackburn, L. Mattas, M. Ruzhnikov, L. Kinsley, V. Silani, S. Lubbe, B. Bustos, D. Krainc, N. Mencacci (Chicago, USA)

Gene rearrangement as the cause of hereditary Hypomyelinating Leukodyistrophy disease type 5 (HLD5)

A. Menéndez-Albarracín, P. Pastor-Muñoz, K. Beyer, M. Gea-Rispal, D. Vilas-Roldán, R. Alvarez-Ramo, L. Ispierto-González (Barcelona, Spain)

Genetic diagnosis of parkinsonian phenotype of Machado Joseph Diseasep (SCA-3) presenting with dopa induced dyskinesia

D. Chaudhari, A. Mishra, P. Renjen, K. Ahmad, N. Sahu (New Delhi, India)

Hereditary spastic paraplegia type 4 (SPG4): an international multicenter clinical and genetic study

A. Orlacchio, E. Panza, R. Rumore, C. Montecchiani, F. Gaudiello, M. Stasi, A. Stigliano, M. Miele, R. Massa, M. Bassi, A. Tessa, F. Santorelli, A. Meyyazhagan, P. St George-Hyslop, J. Pedroso, O. Barsottini, H. Teive, R. Miyamoto, T. Kawarai (Rome, Italy)

Heterozygous aprataxin gene mutation associated with atypical multiple system atrophy phenotype: a case report

A. Imarisio, A. Pilotto, A. Lupini, G. Biasiotto, I. Zanella, I. Palmieri, EM. Valente, A. Padovani (Pavia, Italy)

Identification of atlastin genetic modifiers in a Hereditary Spastic Paraplegia model in Drosophila

P. Olguin, N. Candia, A. Ibacache, I. Medina-Yañez, G. Olivares, M. Ramirez, F. Vega-Macaya, A. Couve, J. Sierralta (Santiago, Chile)

Mosaic divergent repeat interruptions in X-linked dystonia-parkinsonism: stability over generations and time

J. Laß, T. Lüth, K. Schlüter, RL. Rosales, RD. Jamora, G. Saranza, CCE. Diesta, S. Schaake, B. Laabs, N. Brüggemann, I. König, C. Klein, A. Westenberger, J. Trinh (Lübeck, Germany)

Outcomes From Genetic Testing in a UK Movement Disorder Clinic

H. Morrison, L. Leemet, I. Berry, M. Boca (Bristol, United Kingdom)

Overlapping Pathogenetic Findings in Developmental Coordination Disorder (DCD), Ataxia, Dystonia and Myoclonus: is DCD part of a Movement Disorder Spectrum?

M. Garofalo, F. Vansenne, D. Sival, D. Verbeek (Groningen, Netherlands)

Paroxysmal Kinesigenic Dyskinesia caused by a novel missense variant in NBEA

M. Hull, J. Fatih, H. Du, D. Pehlivan, J. Posey, J. Lupski, D. Calame (Houston, USA)

Progressive myoclonic epilepsy ataxia syndrome associated with NUS1 gene mutation

R. Vasireddy, M. Bensalem-Owen, Z. Guduru (Lexington, USA)

Speech, gait and vestibular instrumental assessment in CANVAS: a case series.

G. Di Rauso, F. Cavallieri, V. Fioravanti, E. Monfrini, A. Gessani, I. Campanini, A. Merlo, A. Castellucci, D. Ronchi, M. Napoli, R. Pascarella, S. Grisanti, R. Sabadini, C. Zini, A. Di Fonzo, F. Valzania (Modena, Italy)

Spinocerebellar ataxia type 28 presenting as spastic paraparesis

R. Hoe, S. Neo, L. Tan (Singapore, Singapore)

Striatal neurodegeneration in female carriers of the TAF1 Mutation Causing X-linked Dystonia-Parkinsonism

H. Hanssen, J. Dy, J. Tantianpact, M. Heldmann, H. Manalo, C. Klein, A. Westenberger, J. Oropilla, C. Diesta, N. Brüggemann (Lübeck, Germany)

Yet another cause of Corticobasal Syndrome: A case of TREM2 related Alzheimer’s Disease presenting as Corticobasal Syndrome

R. Todd, S. Doherty, B. Herron, Z. Janmuktane, K. Doherty (Belfast, United Kingdom)