Results 31 to 40 of about 9,290 (208)

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

Expression of human frataxin is regulated by transcription factors SRF and TFAP2.

PLoS ONE, 2010
BackgroundFriedreich ataxia is an autosomal recessive neurodegenerative disease caused by reduced expression levels of the frataxin gene (FXN) due to expansion of triplet nucleotide GAA repeats in the first intron of FXN.
Kuanyu Li, Anamika Singh, Daniel R Crooks, Xiaoman Dai, Zhuangzhuang Cong, Liang Pan, Dung Ha, Tracey A Rouault   +7 more
doaj   +1 more source

More Than Ataxia: Hyperkinetic Movement Disorders in Childhood Autosomal Recessive Ataxia Syndromes

Tremor and Other Hyperkinetic Movements, 2016
Background: The autosomal recessive ataxias are a heterogeneous group of disorders that are characterized by complex neurological features in addition to progressive ataxia.
Toni S. Pearson
doaj   +1 more source

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich's Ataxia. [PDF]

, 2020
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Cherqui, Stephanie, Haquang, Joseph H, Luebeck, Jens, Mali, Prashant, Rainaldi, Joseph N, Rocca, Celine J, Sharma, Jay, Shi, Yanmeng   +7 more
core  

Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients [PDF]

, 2009
Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive disease due to mutations in the senataxin gene, causing progressive cerebellar ataxia with peripheral neuropathy, cerebellar atrophy, occasional oculomotor apraxia and elevated alpha ...
Ali-Pacha, L, Anheim, M, Arning, L, Barbot, C, Benhassine, T, Brice, A, Chabrol, B, Charles, P, Chbicheb, M, Coutinho, P, De Bleecker, Jan, Delaunoy, JP, Drouot, N, Durr, A, Fleury, M, Fritsch, M, Gazulla, J, Goizet, C, Hamri, A, Koenig, M, Koht, J, Le Ber, I, M'Zahem, A, Marelli, C, Monga, B, Mukhtar, M, Murphy, R, Pouget, J, Salih, M, Schols, L, Sequeiros, J, Synofzik, M, Tazir, M, Tranchant, C, Watanabe, M   +34 more
core   +1 more source

Ataxia with Vitamin E Deficiency

Pediatric Neurology Briefs, 1997
Vitamin E adminstration (100 U/kg daily) resulted in improvements in ataxia, motor strength, and mobility in 2 siblings of a consanguineous Bedouin family with Friedreich ataxia and low serum vitamin E levels treated at Soroka Medical Center, Beer Sheva,
J Gordon Millichap
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

Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]

, 2014
Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi, Al-Mahdawi, Al-Mahdawi, Albano, Bidichandani, Brandon Brown, Brian D. Scott, Bridwell-Rabb, Campuzano, Catterall, Chantrel-Groussard, Chorley, Chutake, Condò, Cossée, Cox, De Biase, Deutsch, Drechsel, Dürr, Fahey, Filla, Florestano, Frank, Friedman, Gino A. Cortopassi, Greene, Hashemy, Heike Wulff, Huang, Kalinin, Kensler, Kim, Kim, Koeppen, Koeppen, Kosower, Kosower, Kruger, Lai, Larkin, Liu, Lopert, Lu, Lu, Marissa Z. McMackin, Mark A. Pook, Miranda, Mittal Jasoliya, Montermini, Osburn, Paredes-Gonzalez, Paupe, Riah, Sandi, Sangster, Saveliev, Schmitz-Hübsch, Selak, Shan, Shan, Shan, Shelmire, Sinha, Streck, Subramaniam, Sunil Sahdeo, Susan L. Perlman, Tan, Tan, Tella, Verdon, Wang, Wang, Weaver, Willis, Yang, Yu, Zhang   +78 more
core   +1 more source

Impaired nuclear Nrf2 translocation undermines the oxidative stress response in Friedreich ataxia. [PDF]

PLoS ONE, 2009
BACKGROUND: Friedreich ataxia originates from a decrease in mitochondrial frataxin, which causes the death of a subset of neurons. The biochemical hallmarks of the disease include low activity of the iron sulfur cluster-containing proteins (ISP) and ...
Vincent Paupe, Emmanuel P Dassa, Sergio Goncalves, Françoise Auchère, Maria Lönn, Arne Holmgren, Pierre Rustin   +6 more
doaj   +1 more source

Predicting Loss of Ambulation in Limb Girdle Muscular Dystrophy R9

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Limb girdle muscular dystrophy type R9 (LGMDR9) results from biallelic variants in FKRP. There is limited data to predict loss of ambulation (LOA) among those with LGMDR9. Methods Participants in an ongoing dystroglycanopathy natural history study (NCT00313677) with FKRP variants who had achieved ambulation and were more than 3 ...
Chandra L. Miller, Lauren N. Coffey, Shelley R. H. Mockler, Katie M. Laubscher, Carrie M. Stephan, M. Bridget Zimmerman, Katherine D. Mathews   +6 more
wiley   +1 more source