Results 51 to 60 of about 4,540 (202)

Delayed-onset Friedreich's ataxia revisited

, 2016
Background: Friedreich's ataxia usually occurs before the age of 25. Rare variants have been described, such as late-onset Friedreich's ataxia and very-late-onset Friedreich's ataxia, occurring after 25 and 40 years, respectively.
Pandolfo, Massimo, Sévin-Allouet, Mathieu, Lesne, Fabien, Calvas, Patrick, Eusebio, Alexandre, Guissart, Claire, Dürr, Alexandra, Rudolf, Gabrielle, Meissner, Wassilios,, Renaud, Mathilde, Guyant-Maréchal, Lucie, Alaerts, Nick, Derkinderen, Pascal, N'Guyen, Karine, Azulay, Jean Philippe, Charles, Perrine, Robin, Elsa, Zagnoli, Fabien, Fabre, Nelly, Koenig, Michel, Tranchant, Christine, Tison, Francois, Anheim, Mathieu, Brice, Alexis, Azulay, Jean-Philippe, Goizet, Cyril, Courtois, Sylvie, Péréon, Yann, Rai, Myriam, Lecocq, Claire, Meissner, Wassilios, Meissner, Wassilios, G.   +31 more
core   +1 more source

Clinical and Genetic Diagnosis of Friedreich’s Ataxia

Pediatric Neurology Briefs, 1998
The clinical diagnostic criteria and genetic testing for Friedreich’s ataxia are reviewed from the National Hospital for Neurology and Neurosurgery, Queen Square, London, UK.
J Gordon Millichap
doaj   +1 more source

Neurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz   +19 more
wiley   +1 more source

Noninvasive Focal Gene Delivery into the Cerebellum of Non‐Human Primates using Focused Ultrasound

Advanced Science, EarlyView.
Focal and non‐invasive viral vector delivery in non‐human primates remains a major challenge in translational neuroscience. Low‐intensity focused ultrasound was used to transiently open the blood–brain barrier and enable targeted gene delivery to the cerebellum.
Noelia Esteban‐García, José A. Pineda‐Pardo, Inés Trigo‐Damas, Marta Gutiérrez, Marta Castillo‐Ortiz, Megan Carrillo, Alejandro Reinares‐Sebastian, Víctor Medina‐Chavarrías, Itay Rachmilevitch, Masahiko Takada, José A. Obeso, Javier Blesa   +11 more
wiley   +1 more source

Safety and Efficacy of The Stem Cell Transplantation in Friedreich’s Ataxia: A Report of Three Cases

International Journal of Physiotherapy, 2021
Background: Friedreich’s ataxia is a progressive degenerative disorder caused by deficiency of the frataxin protein. Expanded GAA repeats in intron 1 of the FXN gene lead to its heterochromatinization and transcriptional silencing.
Riza Azeri, Duygu Koyuncu Irmak, Eda Sun, Erdal Karaöz   +3 more
doaj   +1 more source

A CASE OF FRIEDREICH'S ATAXIA [PDF]

Archives of Neurology And Psychiatry, 1921
Friedreich's ataxia is still a rarity, and the opportunity to examine the spinal cord in an early stage of the disease does not often present itself. The following case is of interest because it occurred in a boy, aged 11 years, who died of an acute intercurrent disease. He had a younger brother who also had this familial affection.
openaire   +2 more sources

Genotype and phenotype characterisation of Friedreich ataxia mouse models and cells [PDF]

, 2013
This thesis was submitted for the degree of Doctor of Philosophy and awarded by Brunel UniversityFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder, caused by a GAA repeat expansion mutation within intron 1 of the FXN gene ...
Anjomani Virmouni, Sara
core  

Molecular analysis of Friedreich's ataxia locus in the Indian population

, 2000
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in the frataxin gene. We have carried out the first molecular analysis at the Friedreich's ataxia locus in the Indian population. Materials
Choudhry, S, Saleem, Q, Mukerji, M, Maheshwari, MC, Padma, MV, Jain, S   +5 more
core   +2 more sources

Friedreich's Ataxia in the Elderly

Journal of International Medical Research, 1995
Friedreich's ataxia is one of the best defined and most common forms of hereditary ataxia of unknown aetiology. It is transmitted in an autosomal recessive manner, appearing sporadically, usually in childhood or adolescence. The case of an elderly patient with a possible diagnosis of late-onset Friedreich's ataxia is reported; this is thought to be the
A, Abyad, E, Kligman
openaire   +2 more sources

Late-Onset Friedreich’s Ataxia

Pediatric Neurology Briefs, 1993
Three adult patients from one family with late-onset Friedreich’s ataxia (LOFA) presenting after 25 years (mean age, 30 yrs) were compared with 13 children with classical FA presenting before 20 years (mean age, 13 yrs) and reported from the University ...
J Gordon Millichap
doaj   +1 more source