Results 71 to 80 of about 9,290 (208)

Prediction of the disease course in Friedreich ataxia

Scientific Reports, 2022
We explored whether disease severity of Friedreich ataxia can be predicted using data from clinical examinations. From the database of the European Friedreich Ataxia Consortium for Translational Studies (EFACTS) data from up to five examinations of 602 ...
Christian Hohenfeld, Ulrich Terstiege, Imis Dogan, Paola Giunti, Michael H. Parkinson, Caterina Mariotti, Lorenzo Nanetti, Mario Fichera, Alexandra Durr, Claire Ewenczyk, Sylvia Boesch, Wolfgang Nachbauer, Thomas Klopstock, Claudia Stendel, Francisco Javier Rodríguez de Rivera Garrido, Ludger Schöls, Stefanie N. Hayer, Thomas Klockgether, Ilaria Giordano, Claire Didszun, Myriam Rai, Massimo Pandolfo, Holger Rauhut, Jörg B. Schulz, Kathrin Reetz   +24 more
doaj   +1 more source

No Correlation Between Interferon Signaling and Cytosolic Mitochondrial DNA/RNA Leakage in Cultured Skin Fibroblasts of Patients With Mitochondrial Diseases

European Journal of Immunology, Volume 56, Issue 4, April 2026.
Investigation of IFN signaling in cultured skin fibroblasts from patients with genetically confirmed mitochondrial diseases of diverse origins revealed that altered IFN signaling is an inconsistent feature of these disorders. Cytosolic accumulation of mtDNA and mtRNA was variably detected and showed little correlation with ISG scores.
Manon Marchais, Alessandra Pennisi, Alexandre Pierga, Alice Lepelley, Nicolas Cagnard, Christine Bole, Patrick Nitschke, Mohamed Hamici, Frédéric Rieux‐Laucat, Manuel Schiff, Arnold Munnich, Agnès Rötig   +11 more
wiley   +1 more source

ATAXIA DE FRIEDREICH: RELATO DE UM CASO COM MANIFESTAÇÃO TARDIA

Arquivos de Ciências da Saúde da UNIPAR, 2011
A Ataxia de Friedreich é uma doença neurodegenerativa progressiva, de herança autossômica recessiva, que foi descrita pela primeira vez por Nicholaus Friedreich, em 1863.
Daniela Carvalho Cardozo, Flávio Augusto Vicente Seixas   +1 more
doaj  

Pathogenic or Likely Pathogenic GRN Variants Are Found in 0.1% of Parkinson's Disease Patients

Movement Disorders, Volume 41, Issue 4, Page 1020-1027, April 2026.
Abstract Background Parkinsonism may be observed in multiple neurodegenerative diseases, including GRN‐associated frontotemporal dementia (FTD‐GRN), complicating the differential diagnosis of Parkinson's disease (PD). Objectives To investigate the presence of GRN variants in a large group of PD patients.
Christian A. Ganoza, Ana Westenberger, Jefri J. Paul, Filipa Curado, Jörg Rennecke, Sumanth Mannepalli, Emir Zonic, Deepa Saravanakumar, Omid Paknia, Ruslan Al‐Ali, Björn‐Hergen Laabs, Ilona Csoti, Franco Valzania, Wim Vandenberghe, Katrin Reetz, Mitra Afshari, Sharon Hassin‐Baer, Erich Talamoni Fonoff, Doreen Gruber, Anna de Rosa, Thomas Musacchio, Patricia de Carvalho Aguiar, Anna Negrotti, Vitor Tumas, Juan Carlos Gomez‐Esteban, Tanya Gurevich, Nicola Pavese, Jaime Kulisevsky, Esther Sammler, Christine Klein, Peter Bauer, Christian Beetz   +31 more
wiley   +1 more source

Tradução e validação da escala para avaliação e graduação de ataxia (SARA) para versão brasileira [PDF]

, 2010
The hereditary ataxias comprise a very large spectrum of genetically determined neurodegenerative disorders with progressive ataxia as the prominent symptom.
Barsottini, Orlando Graziani Povoas, Braga-neto, Pedro, Dutra, Lívia Almeida, Godeiro-junior, Clecio, Pedroso, José Luiz   +4 more
core   +3 more sources

Multimodal Imaging Investigation of the Dentato‐Thalamo‐Cortical Pathway in Friedreich's Ataxia

Movement Disorders, Volume 41, Issue 4, Page 909-920, April 2026.
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.
Yinghua Jing, Imis Dogan, Ravi Dadsena, Jennifer Faber, Jörg B. Schulz, Kathrin Reetz, Sandro Romanzetti, on behalf of the FACROSS study group, Stella A. Lischewski, Kerstin Konrad, Miguel Pishnamaz, Maximillian Praster, Thomas Clavel, Vera Jankowski, Joachim Jankowski, Oliver Pabst, Katharina Marx‐Schütt, Nikolaus Marx, Julia Möllmann, Malte Jacobsen, Juergen Dukart, Simon Eickhoff, Ralf‐Dieter Hilgers   +22 more
wiley   +1 more source

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

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   +1 more source

Autosomal recessive cerebellar ataxias

Orphanet Journal of Rare Diseases, 2006
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal ...
Palau Francesc, Espinós Carmen
doaj   +1 more source

Role of Mismatch Repair Enzymes in GAA•TTC Triplet-repeat Expansion in Friedreich Ataxia Induced Pluripotent Stem Cells [PDF]

, 2012
The genetic mutation in Friedreich ataxia (FRDA) is a hyperexpansion of the triplet-repeat sequence GAA•TTC within the first intron of the FXN gene. Although yeast and reporter construct models for GAA•TTC triplet-repeat expansion have been reported ...
Campau, Erica, Dervan, Peter B., Du, Jintang, Gottesfeld, Joel M., Ku, Sherman, Puckett, James W., Soragni, Elisabetta   +6 more
core   +2 more sources

An Exploration of Vitamin D Deficiency and Clinical Status in Friedreich's Ataxia Patients in the UK

Movement Disorders Clinical Practice, EarlyView.
Zofia Fleszar, Gilbert Thomas‐Black, Hector Garcia‐Moreno, Arron Cook, Paola Giunti   +4 more
wiley   +1 more source