Autosomal recessive cerebellar ataxias: paving the way toward targeted molecular therapies

M Synofzik, H Puccio, F Mochel, L Schöls - Neuron, 2019 - cell.com
Autosomal-recessive cerebellar ataxias (ARCAs) comprise a heterogeneous group of rare
degenerative and metabolic genetic diseases that share the hallmark of progressive …

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 …

Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study

K Reetz, I Dogan, RD Hilgers, P Giunti… - The Lancet …, 2021 - thelancet.com
Summary Background The European Friedreich's Ataxia Consortium for Translational
Studies (EFACTS) investigates the natural history of Friedreich's ataxia. We aimed to assess …

Efficacy and safety of leriglitazone in patients with Friedreich ataxia: a phase 2 double-blind, randomized controlled trial (FRAMES)

M Pandolfo, K Reetz, A Darling… - Neurology …, 2022 - neurology.org
Background and Objectives Friedreich ataxia (FRDA) is an autosomal recessive ataxia with
no approved treatments. Leriglitazone is a selective peroxisome proliferator–activated …

Quantitative susceptibility map** reveals alterations of dentate nuclei in common types of degenerative cerebellar ataxias

A Deistung, D Jäschke, R Draganova… - Brain …, 2022 - academic.oup.com
The cerebellar nuclei are a brain region with high iron content. Surprisingly, little is known
about iron content in the cerebellar nuclei and its possible contribution to pathology in …

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 …

Developmental and neurodegenerative damage in Friedreich's ataxia

TJR Rezende, ARM Martinez, I Faber… - European journal of …, 2019 - Wiley Online Library
Background and purpose Friedreich's ataxia (FRDA) is the most common autosomal‐
recessive ataxia worldwide. It is characterized by early onset, sensory abnormalities and …

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 …

[HTML][HTML] Mitochondrial and metabolic dysfunction in Friedreich ataxia: update on pathophysiological relevance and clinical interventions

DR Lynch, G Farmer - Neuronal signaling, 2021 - portlandpress.com
Friedreich ataxia (FRDA) is a recessive disorder resulting from relative deficiency of the
mitochondrial protein frataxin. Frataxin functions in the process of iron–sulfur (Fe–S) cluster …