Louise Corben

Reduced cerebello-cerebral functional connectivity correlates with disease severity and impaired white matter integrity in Friedreich ataxia.

Rebecca Kerestes, Hannah Cummins, Nellie Georgiou-Karistianis, Louisa P Selvadurai, Louise A Corben, Martin B Delatycki, Gary F Egan, Ian H Harding

Journal article  |  2023  |  J Neurol

Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease characterised in most cases by progressive and debilitatin..

Technological Evolution in the Instrumentation of Ataxia Severity Measurement

T Ngo, PN Pathirana, MK Horne, LA Corben, IH Harding, DJ Szmulewicz

Journal article  |  2023  |  IEEE Access

Cerebellar ataxia is the poorly coordinated movement that results from injury or disease affecting the cerebellum. The diagnosis a..

Progressive Spinal Cord Degeneration in Friedreich's Ataxia: Results from ENIGMA-Ataxia.

Thiago JR Rezende, Isaac M Adanyeguh, Filippo Arrigoni, Benjamin Bender, Fernando Cendes, Louise A Corben, Andreas Deistung, Martin Delatycki, Imis Dogan, Gary F Egan, Sophia L Göricke, Nellie Georgiou-Karistianis, Pierre-Gilles Henry, Diane Hutter, Neda Jahanshad, James M Joers, Christophe Lenglet, Tobias Lindig, Alberto RM Martinez, Andrea Martinuzzi, et al.

Journal article  |  2023  |  Mov Disord

BACKGROUND: Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its progression and clinical correlates remain unc..

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS.

Christian Rummey, Ian H Harding, Martin B Delatycki, Geneieve Tai, Thiago Rezende, Louise A Corben

Journal article  |  2022  |  Ann Clin Transl Neurol

The ever-increasing body of ataxia research provides opportunities for large-scale meta-analyses, systematic reviews, and data agg..

Consensus Paper: Novel Directions and Next Steps of Non-invasive Brain Stimulation of the Cerebellum in Health and Disease.

Mario Manto, Georgios PD Argyropoulos, Tommaso Bocci, Pablo A Celnik, Louise A Corben, Matteo Guidetti, Giacomo Koch, Alberto Priori, John C Rothwell, Anna Sadnicka, Danny Spampinato, Yoshikazu Ugawa, Maximilian J Wessel, Roberta Ferrucci

Journal article  |  2022  |  Cerebellum

The cerebellum is involved in multiple closed-loops circuitry which connect the cerebellar modules with the motor cortex, prefront..

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Louise A Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Joerg B Schulz, Kim Lin, Martin B Delatycki

Journal article  |  2022  |  ORPHANET JOURNAL OF RARE DISEASES

BACKGROUND: Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate bes..

RFC1-Related Disease: Molecular and Clinical Insights.

Kayli Davies, David J Szmulewicz, Louise A Corben, Martin Delatycki, Paul J Lockhart

Journal article  |  2022  |  Neurol Genet

In 2019, a biallelic pentanucleotide repeat expansion in the gene encoding replication factor C subunit 1 (RFC1) was reported as a..

Natural History of Friedreich Ataxia Heterogeneity of Neurologic Progression and Consequences for Clinical Trial Design

Christian Rummey, Louise A Corben, Martin Delatycki, George Wilmot, Sub H Subramony, Manuela Corti, Khalaf Bushara, Antoine Duquette, Christopher Gomez, J Chad Hoyle, Richard Roxburgh, Lauren Seeberger, Grace Yoon, Katherine Mathews, Theresa Zesiewicz, Susan Perlman, David R Lynch

Journal article  |  2022  |  NEUROLOGY

BACKGROUND: - The understanding of the natural history of Friedreich's ataxia has improved considerably recently, but patterns of ..

Overview of the Clinical Approach to Individuals With Cerebellar Ataxia and Neuropathy

Leslie J Roberts, Michael McVeigh, Linda Seiderer, Ian H Harding, Louise A Corben, Martin Delatycki, David J Szmulewicz

Journal article  |  2022  |  NEUROLOGY-GENETICS

Increasingly, cerebellar syndromes are recognized as affecting multiple systems. Extracerebellar features include peripheral neuro..

Blockchained Federated Learning for Privacy and Security Preservation: Practical Example of Diagnosing Cerebellar Ataxia.

Thang Ngo, Dinh C Nguyen, Pubudu N Pathirana, Louise A Corben, Malcolm Horne, David J Szmulewicz

Conference Proceedings  |  2022  |  Annu Int Conf IEEE Eng Med Biol Soc

Cerebellar ataxia (CA) refers to the incoordination of movements of the eyes, speech, trunk, and limbs caused by cerebellar dysfun..