Results 21 to 30 of about 7,170 (177)

Peripheral blood gene expression reveals an inflammatory transcriptomic signature in Friedreich's ataxia patients. [PDF]

, 2018
Transcriptional changes in Friedreich's ataxia (FRDA), a rare and debilitating recessive Mendelian neurodegenerative disorder, have been studied in affected but inaccessible tissues-such as dorsal root ganglia, sensory neurons and cerebellum-in animal ...
Coppola, Giovanni, Dokuru, Deepika, Farmer, Jennifer, Gao, Fuying, Isaacs, Charles, Lynch, David R, Nachun, Daniel, Perlman, Susan, Sears, Renee, Strawser, Cassandra, Van Berlo, Victoria, Yang, Zhongan   +11 more
core   +1 more source

Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]

, 2016
The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique, Gonzalez-Lebrero, Rodolfo Martin, Roman, Ernesto Andres, Santos, Javier   +3 more
core   +1 more source

The differential diagnosis of chorea [PDF]

, 2007
Chorea is a hyperkinetic movement disorder characterised by excessive spontaneous movements that are irregularly timed, randomly distributed and abrupt. In this article, the authors discuss the causes of chorea, particularly Huntington's disease and the ...
Tabrizi, SJ, Wild, EJ
core   +1 more source

Clinical management guidelines for Friedreich ataxia: best practice in rare diseases

Orphanet Journal of Rare Diseases, 2022
Background Individuals with Friedreich ataxia (FRDA) can find it difficult to access specialized clinical care. To facilitate best practice in delivering healthcare for FRDA, clinical management guidelines (CMGs) were developed in 2014. However, the lack
Louise A. Corben, Veronica Collins, Sarah Milne, Jennifer Farmer, Ann Musheno, David Lynch, Sub Subramony, Massimo Pandolfo, Jörg B. Schulz, Kim Lin, Martin B. Delatycki, the Clinical Management Guidelines Writing Group   +11 more
doaj   +1 more source

Sensory ataxia and cardiac hypertrophy caused by neurovascular oxidative stress in chemogenetic transgenic mouse lines

Nature Communications, 2023
Oxidative stress is associated with cardiovascular and neurodegenerative diseases. Here we report studies of neurovascular oxidative stress in chemogenetic transgenic mouse lines expressing yeast D-amino acid oxidase (DAAO) in neurons and vascular ...
Shambhu Yadav, Markus Waldeck-Weiermair, Fotios Spyropoulos, Roderick Bronson, Arvind K. Pandey, Apabrita Ayan Das, Alexander C. Sisti, Taylor A. Covington, Venkata Thulabandu, Shari Caplan, William Chutkow, Benjamin Steinhorn, Thomas Michel   +12 more
doaj   +1 more source

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
doaj   +1 more source

Epoetin alfa increases frataxin production in Friedreich's ataxia without affecting hematocrit. [PDF]

, 2011
Objective of the study was to test the efficacy, safety, and tolerability of two single doses of Epoetin alfa in patients with Friedreich's ataxia. Ten patients were treated subcutaneously with 600 IU/kg for the first dose, and 3 months later with 1200 ...
ACQUAVIVA, Fabio, ANTENORA, ANTONELLA, CARLOMAGNO, guido, CITTADINI, ANTONIO, COCOZZA, SERGIO, DE MICHELE, GIUSEPPE, Denaro A., FILLA, ALESSANDRO, GUACCI, ANNA, Marsili A., Perrotta G., PIRO, RAFFAELE, Puorro G., SACCA', FRANCESCO   +13 more
core   +1 more source

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

AMRC Open Research, 2023
Background: Progressive ataxias are complex disorders that result in a wide variety of symptoms. Whilst we currently have a relatively good understanding of the spectrum of symptoms associated with the various types of ataxia, and their progression over ...
Julie Greenfield, Anja Lowit, Ruby Wallis, Emily Cutting, Marios Hadjivassiliou   +4 more
doaj   +1 more source

Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases

Orphanet Journal of Rare Diseases, 2018
Background Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a treatment, and only about half have a patient advocacy organization.
Susan Stein, Elizabeth Bogard, Nicole Boice, Vivian Fernandez, Tessa Field, Alan Gilstrap, Susan R. Kahn, Jane Larkindale, Toni Mathieson   +8 more
doaj   +1 more source

Predictors of loss of ambulation in Friedreich's ataxia

EClinicalMedicine, 2020
Background: Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals.
Christian Rummey, Jennifer M. Farmer, David R. Lynch   +2 more
doaj   +1 more source