Recessive cerebellar and afferent ataxias—clinical challenges and future directions

M Beaudin, M Manto, JD Schmahmann… - Nature Reviews …, 2022 - nature.com
Cerebellar and afferent ataxias present with a characteristic gait disorder that reflects
cerebellar motor dysfunction and sensory loss. These disorders are a diagnostic challenge …

Overview of the clinical approach to individuals with cerebellar ataxia and neuropathy

LJ Roberts, M McVeigh, L Seiderer, IH Harding… - Neurology …, 2022 - AAN Enterprises
Increasingly, cerebellar syndromes are recognized as affecting multiple systems.
Extracerebellar features include peripheral neuropathies affecting proprioception; cranial …

Neuroinflammation in the Cerebellum and Brainstem in Friedreich Ataxia: An [18F]‐FEMPA PET Study

W Khan, LA Corben, H Bilal, L Vivash… - Movement …, 2022 - Wiley Online Library
Background Neuroinflammation is proposed to accompany, or even contribute to,
neuropathology in Friedreich ataxia (FRDA), with implications for disease treatment and …

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

TJR Rezende, IM Adanyeguh, F Arrigoni… - Movement …, 2023 - Wiley Online Library
Background Spinal cord damage is a hallmark of Friedreich's ataxia (FRDA), but its
progression and clinical correlates remain unclear. Objective The objective of this study was …

A natural history study to track brain and spinal cord changes in individuals with Friedreich's ataxia: TRACK-FA study protocol

N Georgiou-Karistianis, LA Corben, K Reetz… - Plos one, 2022 - journals.plos.org
Introduction Drug development for neurodegenerative diseases such as Friedreich's ataxia
(FRDA) is limited by a lack of validated, sensitive biomarkers of pharmacodynamic response …

Brain MRI detects early-stage alterations and disease progression in Friedreich ataxia

IM Adanyeguh, JM Joers, DK Deelchand… - Brain …, 2023 - academic.oup.com
Friedreich ataxia is a progressive neurodegenerative disorder characterized by cerebellar
and spinal atrophy. However, studies to elucidate the longitudinal progression of the …

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

R Kerestes, H Cummins, N Georgiou-Karistianis… - Journal of …, 2023 - Springer
Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease characterised in
most cases by progressive and debilitating motor dysfunction. Degeneration of cerebellar …

[PDF][PDF] A standardized pipeline for examining human cerebellar grey matter morphometry using structural magnetic resonance imaging

R Kerestes, S Han, S Balachander… - J Vis Exp, 2022 - diedrichsenlab.org
Multiple lines of research provide compelling evidence for a role of the cerebellum in a wide
array of cognitive and affective functions, going far beyond its historical association with …

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

C Rummey, IH Harding, MB Delatycki… - Annals of Clinical …, 2022 - Wiley Online Library
The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐
analyses, systematic reviews, and data aggregation. Because multiple standardized scales …

Retinal hypoplasia and degeneration result in vision loss in Friedreich ataxia

LN Rodden, K McIntyre, M Keita… - Annals of Clinical …, 2023 - Wiley Online Library
Objective Friedreich ataxia (FRDA) is an inherited condition caused by a GAA triplet repeat
(GAA‐TR) expansion in the FXN gene. Clinical features of FRDA include ataxia …