Results 71 to 80 of about 46,226 (179)

Spinal Cord Atrophy Correlates with Disability in Friedreich's Ataxia

, 2015
Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)Although Friedreich's ataxia is characterized by spinal cord atrophy, it remains to be investigated the possible correlation of such atrophy with clinical disability and genetic parameters ...
D'Abreu, A, Chevis, CF, Franca, MC, Cendes, F, Bergo, FPG, da Silva, CB, Lopes-Cendes, I   +6 more
core   +2 more sources

Friedreich's ataxia: clinical aspects and pathogenesis.

, 1999
Friedreich's ataxia is the most frequent inherited ataxia in Caucasians. It is caused by deficiency of frataxin, a highly conserved nuclear-encoded protein localized in mitochondria.
Pandolfo, Massimo
core   +1 more source

Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment [PDF]

, 2008
Background Friedreich ataxia is a neurological disease originating from an iron-sulfur cluster enzyme deficiency due to impaired iron handling in the mitochondrion, aconitase being particularly affected.
Paupe, Vincent, Sergio Goncalves, Vincent Paupe, Rustin, Pierre, Dassa Emmanuel P, Rustin Pierre, Paupe Vincent, Pierre Rustin, Dassa, Emmanuel,, Goncalves Sergio, Dassa, Emmanuel, P., Emmanuel P Dassa, Goncalves, Sergio   +12 more
core   +2 more sources

Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons

Nature Communications, 2020
Friedreich’s ataxia (FRDA) is an autosomal-recessive disorder. Here the authors describe a DRG organoid from patient derived-neurons and co-culture with muscle cells to mimic the disorder in vitro and demonstrate potential correction of the phenotype by ...
Pietro Giuseppe Mazzara, Sharon Muggeo, Mirko Luoni, Luca Massimino, Mattia Zaghi, Parisa Tajalli-Tehrani Valverde, Simone Brusco, Matteo Jacopo Marzi, Cecilia Palma, Gaia Colasante, Angelo Iannielli, Marianna Paulis, Chiara Cordiglieri, Serena Gea Giannelli, Paola Podini, Cinzia Gellera, Franco Taroni, Francesco Nicassio, Marco Rasponi, Vania Broccoli   +19 more
doaj   +1 more source

Depressive symptoms in Friedreich ataxia

International Journal of Clinical and Health Psychology, 2018
Background/Objective: Almost no attention has been paid to depression in Friedreich ataxia (FRDA), a highly disabling cerebellar degenerative disease. Our aim was to study the presence and the profile of depressive symptoms in FRDA and their relationship with demographic-disease variables and cognitive processing speed.
Nieto Barco, Antonieta, Hernández Torres, Atteneri, Pérez Flores, Javier, Montón, Fernando   +3 more
openaire   +3 more sources

Friedreich's ataxia presenting as adult-onset spastic paraparesis

, 1998
We have studied a man with an atypical form of Friedreich's ataxia (FRDA), who presented at age 26 years with a 2-year history of unsteadiness and clumsiness.
Gates, Peter C., Paris, Damien, McKinlay Gardner, R.J., Williamson, Robert, Forrest, Susan M.   +4 more
core   +1 more source

Iron Storage in Friedreich’s Ataxia

Pediatric Neurology Briefs, 1999
To test the hypothesis that iron is increased in the cerebellum of patients with Friedreich’s ataxia (FA), a multigradient echo magnetic resonance sequence for the three-dimensional imaging of brain iron-induced contrast was used in 12 patients and 23 ...
J Gordon Millichap
doaj   +1 more source

Diazoxide for the treatment of Friedreich's Ataxia

, 2014
A pharmaceutical preparation treats Friedreich's ataxia and treats or prevents pathologies related thereto. In particular, the pharmaceutical preparation concerns the use of diazoxide or 7-chloro-3-methyl-4H-1,2,4 benzothiadiazine 1,1-dioxide, in ...
PALMIERI, Luigi, PALMIERI, Ferdinando, MAROBBIO, CARLO MARYA, SANTORO, ANTONELLA   +3 more
core  

Friedreich’s Ataxia with Retained Reflexes

Pediatric Neurology Briefs, 1995
Genetic linkage analyses in 11 patients from 6 families with Friedreich’s ataxia (FA) phenotype, including cardiomyopathy, but retained reflexes (FARR), are reported from the University of Naples and C Besta Neurological Institute, Milan, Italy; and La ...
J Gordon Millichap
doaj   +1 more source

Insulin-dependent diabetes mellitus and Friedreich's ataxia in siblings

, 1970
Two female siblings with Friedreich's ataxia became acutely diabetic at ages 15 and 21 years, requiring insulin therapy for the duration of their lives.
Sheremata, William A, Podolsky, Stephen   +1 more
core   +1 more source