Results 31 to 40 of about 6,264 (195)

Symptom burden of people with progressive ataxia, and its wider impact on their friends and relatives: a cross-sectional study [version 1; peer review: 1 approved, 2 approved with reservations]

AMRC Open Research, 2021
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the symptom patterns associated with the various types of ataxia, and how these diseases progress
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Lentivirus-meditated frataxin gene delivery reverses genome instability in Friedreich ataxia patient and mouse model fibroblasts [PDF]

, 2016
Friedreich ataxia (FRDA) is a progressive neurodegenerative disease caused by deficiency of frataxin protein, with the primary sites of pathology being the large sensory neurons of the dorsal root ganglia and the cerebellum.
A Celeste, A Ciccia, A Martelli, A Nowrouzi, A Wong, AC Haugen, AH Koeppen, C Demaison, C Parris, C Sandi, C Sandi, CJ Miranda, E Riballo, EC Bourton, EC Bourton, EC Deutsch, EP Rogakou, F Herbst, G Karthikeyan, G Karthikeyan, GM Palomo, GN Pitiyage, H Khonsari, HJ Evans, I Guccini, J Fleming, JA Navarro, JV Llorens, M A Pook, M Pandolfo, M Pandolfo, M Perdomini, M Schneider, M Themis, M Themis, M Themis, MA Selak, MB Delatycki, ML Jauslin, NJ Ward, O Gakh, PD Lewis, R Lodi, R Shimizu, R Thierbach, R Zufferey, RM Payne, S Al-Mahdawi, S Anjomani Virmouni, S Chamberlain, S Chamberlain, S Charrier, S Negrini, S Schmucker, SK Greenwood, T Dull, TE Richardson, TE Richardson, TJ Schulz, TM Marti, U Blomer, V Campuzano, V Campuzano, V Valdiglesias, Y G Chianea, Y Shan, Y Shen   +66 more
core   +1 more source

Diagnosing Friedreich's ataxia [PDF]

Archives of Disease in Childhood, 1998
Clinical diagnosis is still of the utmost importance and following our review of cases diagnosed using the strict criteria, 100% were homozygous for the expansion. However, now that there is a relatively simple direct genetic test, the diagnosis can be considered in more unusual cases.
openaire   +2 more sources

Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]

, 2016
Friedreich’s ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis. We
Ho, SL, Ho, WL, Lai, KWH, Lau, VYM, Lee, YK, Ng, KM, Siu, DCW, Tse, HF   +7 more
core   +1 more source

Urinary, bowel and sexual symptoms in a cohort of patients with Friedreich's ataxia [PDF]

, 2017
BACKGROUND: Pelvic symptoms are distressing symptoms experienced by patients with Friedreich’s Ataxia (FRDA). The aim of this study was to describe the prevalence of lower urinary tract symptoms (LUTS), bowel and sexual symptoms in FRDA.
Bogdanova-Mihaylova, P, Emmanuel, A, Giunti, P, Lad, M, Murphy, S, Pandolfo, M, Panicker, J, Parkinson, MH, Rai, M, Walsh, RA   +9 more
core   +1 more source

P53 binds preferentially to non-B DNA structures formed by the pyrimidine-rich strands of GaA·TTC trinucleotide repeats associated with Friedreich’s ataxia [PDF]

, 2019
Expansions of trinucleotide repeats (TNRs) are associated with genetic disorders such as Friedreich’s ataxia. The tumor suppressor p53 is a central regulator of cell fate in response to different types of insults.
Adámik, Matej, Bažantová, Pavla, Bowater, Richard P., Brázdová, Marie, Fojta, Miroslav, Helma, Robert, Pastuchová, Alena, Petr, Marek, Pečinka, Petr, Renčiuk, Daniel, Soldánová, Zuzana, Tichý, Vlastimil   +11 more
core   +1 more source

Life-Threatening Adverse Reaction after Self-Initiated, Off-Label Use of High Dose Nicotinamide for the Treatment of Friedreich’s Ataxia

European Journal of Case Reports in Internal Medicine, 2015
A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
doaj   +1 more source

Harmonizing results of ataxia rating scales: mFARS, SARA, and ICARS

Annals of Clinical and Translational Neurology, 2022
The ever‐increasing body of ataxia research provides opportunities for large‐scale meta‐analyses, systematic reviews, and data aggregation. Because multiple standardized scales are used to quantify ataxia severity, harmonization of these measures is ...
Christian Rummey, Ian H. Harding, Martin B. Delatycki, Geneieve Tai, Thiago Rezende, Louise A. Corben   +5 more
doaj   +1 more source

Respiratory Function in Friedreich’s Ataxia

Children, 2022
Background: Friedreich’s ataxia is an inherited, rare, progressive disorder of children and young adults. It is characterized by ataxia, loss of gait, scoliosis, cardiomyopathy, dysarthria and dysphagia, with reduced life expectancy.
Elena Vinante, Elena Colombo, Gabriella Paparella, Michela Martinuzzi, Andrea Martinuzzi   +4 more
doaj   +1 more source

The Structure and Function of Frataxin [PDF]

, 2006
Frataxin, a highly conserved protein found in prokaryotes and eukaryotes, is required for efficient regulation of cellular iron homeostasis. Humans with a frataxin deficiency have the cardio- and neurodegenerative disorder Friedreich’s ataxia, commonly ...
Bencze, Krisztina Z., Cook, Jeremy D., Kondapalli, Kalyan C., McMahon, Stephen, Millán-Pacheco, César, Pastor, Nina, Stemmler, Timothy L.   +6 more
core   +2 more sources