Friedreich Ataxia: current status and future prospects

K Bürk - Cerebellum & ataxias, 2017 - Springer
Friedreich ataxia (FA) represents the most frequent type of inherited ataxia. Most patients
carry homozygous GAA expansions in the first intron of the frataxin gene on chromosome 9 …

Clinical features of Friedreich's ataxia: classical and atypical phenotypes

MH Parkinson, S Boesch, W Nachbauer… - Journal of …, 2013 - Wiley Online Library
One hundred and fifty years since Nikolaus Friedreich's first description of the degenerative
ataxic syndrome which bears his name, his description remains at the core of the classical …

Friedreich ataxia: clinical features and new developments

M Keita, K McIntyre, LN Rodden, K Schadt… - Neurodegenerative …, 2022 - Taylor & Francis
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other
neurological features, affects 1 in 50,000–100,000 individuals in the USA. However, FRDA …

Friedreich ataxia: multidisciplinary clinical care

DR Lynch, K Schadt, E Kichula… - Journal of …, 2021 - Taylor & Francis
Friedreich ataxia (FRDA) is a multisystem disorder affecting 1 in 50,000–100,000 person in
the United States. Traditionally viewed as a neurodegenerative disease, FRDA patients also …

Cardiovascular research in Friedreich ataxia: unmet needs and opportunities

RM Payne - Basic to Translational Science, 2022 - jacc.org
Friedreich Ataxia (FRDA) is an autosomal recessive disease in which a mitochondrial
protein, frataxin, is severely decreased in its expression. In addition to progressive ataxia …

Open‐label pilot study of interferon gamma‐1b in Friedreich ataxia

L Seyer, N Greeley, D Foerster… - Acta Neurologica …, 2015 - Wiley Online Library
Objectives/Aims This is an open‐label trial of the safety of interferon gamma‐1b (IFN‐γ) and
its effect on frataxin levels and neurologic measures in 12 children with Friedreich ataxia …

Predictors of Survival in Friedreich's Ataxia: A Prospective Cohort Study

E Indelicato, K Reetz, S Maier… - Movement …, 2024 - Wiley Online Library
Background Friedreich's ataxia (FA) is a rare multisystemic disorder which can cause
premature death. Objectives To investigate predictors of survival in FA. Methods Within a …

Identification of safe and effective intravenous dose of AAVrh. 10hFXN to treat the cardiac manifestations of Friedreich's ataxia

C Munoz-Zuluaga, M Gertz, M Yost-Bido… - Human Gene …, 2023 - liebertpub.com
Friedreich's ataxia (FA) is a life-threatening autosomal recessive disorder characterized by
neurological and cardiac dysfunction. Arrhythmias and heart failure are the main cause of …

Antioxidant therapies and oxidative stress in friedreich's ataxia: The right path or just a diversion?

LR Rodríguez, T Lapeña, P Calap-Quintana, MD Moltó… - Antioxidants, 2020 - mdpi.com
Friedreich's ataxia is the commonest autosomal recessive ataxia among population of
European descent. Despite the huge advances performed in the last decades, a cure still …

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: a model for the multidisciplinary care of complex genetic disorders

RB Sommerville, MG Vincenti, K Winborn… - Trends in cardiovascular …, 2017 - Elsevier
Genetic disorders that disrupt the structure and function of the cardiovascular system and the
peripheral nervous system are common enough to be encountered in routine cardiovascular …