Results 1 to 10 of about 3,355 (169)

Domain Specific Placebo Response in the Modified Friedreich's Ataxia Rating Scale [PDF]

Annals of Clinical and Translational Neurology
The placebo response in clinical trials in ataxias complicates outcome interpretation and potentially obscures genuine treatment effects. We analyzed placebo group data from past trials in Friedreich Ataxia and observed notable responses in appendicular ...
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
doaj   +2 more sources

Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late [PDF]

Annals of Clinical and Translational Neurology
Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in patients with ...
Kathrin Reetz, Stella A. Lischewski, Jörg B. Schulz, Maximilian Praster, Miguel Pishnamaz, the FACROSS study group, Imis Dogan, Sandro Romanzetti, Ravi Dadsena, Kerstin Konrad, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Nikolaus Marx, Julia Moellmann, Malte Jacobsen, Katharina Marx‐Schütt, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +20 more
doaj   +2 more sources

Multimodal Imaging Investigation of the Dentato-Thalamo-Cortical Pathway in Friedreich's Ataxia. [PDF]

Mov Disord
Abstract Background Friedreich's ataxia (FRDA) is a spinocerebellar neurodegenerative disorder. The dentato‐thalamo‐cortical (DTC) pathway, an important cerebellar output involved in motor control, plays a crucial role in the neural mechanisms underlying ataxia symptoms in FRDA.
Jing Y, Dogan I, Dadsena R, Faber J, Schulz JB, Reetz K, Romanzetti S, FACROSS study group.   +7 more
europepmc   +2 more sources

Neuroinflammation in Friedreich's Ataxia. [PDF]

Int J Mol Sci, 2022
Friedreich’s ataxia (FRDA) is a rare genetic disorder caused by mutations in the gene frataxin, encoding for a mitochondrial protein involved in iron handling and in the biogenesis of iron−sulphur clusters, and leading to progressive nervous system damage.
Apolloni S, Milani M, D'Ambrosi N.
europepmc   +4 more sources

Revisiting Friedreich's Ataxia: Phenotypic and Imaging Characteristics [PDF]

Annals of Indian Academy of Neurology
Background and Aim: Friedreich's ataxia (FRDA) is a common cause of autosomal recessive cerebellar ataxia. The phenotype is dependent on the repeat size and duration of the disease.
Rohan Mahale, Meera Purushottam, Raviprakash Singh, Ramachandra Yelamanchi, Nitish Kamble, Vikram Holla, Pramod K. Pal, Sanjeev Jain, Ravi Yadav   +8 more
doaj   +2 more sources

Evaluating mFARS in pediatric Friedreich's ataxia: Insights from the FACHILD study [PDF]

Annals of Clinical and Translational Neurology
Objectives Friedreich ataxia (FRDA) is a rare genetic disorder caused by mutations in the FXN gene, leading to progressive coordination loss and other symptoms. The recently approved omaveloxolone targets this condition but is limited to patients over 16 
Christian Rummey, Susan Perlman, Sub. H. Subramony, Jennifer Farmer, David R. Lynch   +4 more
doaj   +2 more sources

Safety, pharmacokinetics, and pharmacodynamics of nomlabofusp (CTI‐1601) in Friedreich's ataxia [PDF]

Annals of Clinical and Translational Neurology
Objective Current treatments for Friedreich's ataxia, a neurodegenerative disorder characterized by decreased intramitochondrial frataxin, do not address low frataxin concentrations.
Russell Clayton, Teresa Galas, Noreen Scherer, Jennifer Farmer, Nancy Ruiz, Mohamed Hamdani, Devin Schecter, David Bettoun   +7 more
doaj   +2 more sources

Anti-gene oligonucleotides targeting Friedreich’s ataxia expanded GAA⋅TTC repeats increase Frataxin expression [PDF]

Molecular Therapy: Nucleic Acids
Friedreich’s ataxia is a progressive, autosomal recessive ataxia caused, in most cases, by homozygous expansion of GAA⋅TTC triplet-repeats in the first intron of the Frataxin gene.
Negin Mozafari, Salomé Milagres, Tea Umek, Cristina S.J. Rocha, Claudia M. Vargiu, Fiona Freyberger, Osama Saher, Marek Napierala, Jill S. Napierala, Pontus Blomberg, Per T. Jørgensen, Tanel Punga, C. I. Edvard Smith, Jesper Wengel, Rula Zain   +14 more
doaj   +2 more sources

Anesthesia Management in Scoliosis Surgery of Patients with Friedreich’s Ataxia: A Report of Four Cases

Genel Tıp Dergisi, 2022
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease, which may be accompanied by scoliosis, cardiac, endocrine and pulmonary comorbidities. We present our anesthesia experiences using total intravenous anesthesia (TIVA) method
Muhammed Köse, Ercan Bal, Şemsi Mustafa Aksoy, Ayşe Lafçı   +3 more
doaj   +1 more source

Quetiapine treatment for psychosis in friedreich’s ataxia

Psychiatry and Clinical Psychopharmacology, 2021
Friedreich’s Ataxia is the most common form of progressive spinocerebellar ataxia with mixed sensory and cerebellar components and is inherited via an autosomal-recessive gene.
Serdar Oruc, Guray Gulseren, Ozge Yilmaz Kusbeci, Mehmet Yaman, Omer Gecici   +4 more
doaj   +1 more source