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 …

Central nervous system therapeutic targets in Friedreich ataxia

IH Harding, DR Lynch, AH Koeppen… - Human gene …, 2020 - liebertpub.com
Friedreich ataxia (FRDA) is an autosomal recessive inherited multisystem disease,
characterized by marked differences in the vulnerability of neuronal systems. In general, the …

Brain structure and degeneration staging in Friedreich ataxia: magnetic resonance imaging volumetrics from the ENIGMA‐ataxia working group

IH Harding, S Chopra, F Arrigoni, S Boesch… - Annals of …, 2021 - Wiley Online Library
Objective Friedreich ataxia (FRDA) is an inherited neurological disease defined by
progressive movement incoordination. We undertook a comprehensive characterization of …

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 …

[HTML][HTML] 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 …

[HTML][HTML] The cognitive profile of Friedreich ataxia: a systematic review and meta-analysis

G Naeije, JB Schulz, LA Corben - BMC neurology, 2022 - Springer
Background Study the cognitive profile of individuals with Friedreich ataxia (FRDA) and seek
evidence for correlations between clinical, genetic and imaging characteristics and …

Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE‐FRDA study

LP Selvadurai, LA Corben, MB Delatycki… - Human brain …, 2020 - Wiley Online Library
Friedreich ataxia is a progressive neurodegenerative disorder with reported abnormalities in
cerebellar, brainstem, and cerebral white matter. White matter structure can be measured …

Cerebellum and cognition in Friedreich ataxia: a voxel-based morphometry and volumetric MRI study

S Cocozza, T Costabile, G Pontillo, M Lieto… - Journal of …, 2020 - Springer
Background Recent studies have suggested the presence of a significant atrophy affecting
the cerebellar cortex in Friedreich ataxia (FRDA) patients, an area of the brain long …

Anodal Cerebellar Transcranial Direct Current Stimulation Reduces Motor and Cognitive Symptoms in Friedreich's Ataxia: A Randomized, Sham‐Controlled Trial

G Naeije, A Rovai, V Destrebecq, N Trotta… - Movement …, 2023 - Wiley Online Library
Abstract Background Friedreich Ataxia is the most common recessive ataxia with only one
therapeutic drug approved solely in the United States. Objective The aim of this work was to …

[HTML][HTML] Cerebellar abnormalities on proton MR spectroscopy and imaging in patients with gluten ataxia: a pilot study

V Rawat, R Tyagi, I Singh, P Das… - Frontiers in Human …, 2022 - frontiersin.org
Gluten ataxia is a rare immune-mediated neurological disorder caused by the ingestion of
gluten. The diagnosis is not straightforward as antibodies are present in only up to 38% of …