Results 61 to 70 of about 46,226 (179)

Friedreich's ataxia [PDF]

, 1900
A short treatise on. Friedreich's ataxia, with a discussion of the classic symptoms, a short digest of the more important pathological points, differential diagnosis, theories with regard to causation, prognosis and treatment.
Gibb, William Alexander
core  

Inducible and reversible phenotypes in a novel mouse model of Friedreich’s Ataxia

eLife, 2017
Friedreich's ataxia (FRDA), the most common inherited ataxia, is caused by recessive mutations that reduce the levels of frataxin (FXN), a mitochondrial iron binding protein.
Vijayendran Chandran, Kun Gao, Vivek Swarup, Revital Versano, Hongmei Dong, Maria C Jordan, Daniel H Geschwind   +6 more
doaj   +1 more source

Mitochondrial pathophysiology in Friedreich's ataxia [PDF]

Journal of Neurochemistry, 2013
AbstractNeurological examination indicates that Friedreich's ataxia corresponds to a mixed sensory and cerebellar ataxia, which affects the proprioceptive pathways. Neuropathology and pathophysiology of Friedreich's ataxia involves the peripheral sensory nerves, dorsal root ganglia, posterior columns, the spinocerebellar, and corticospinal tracts of ...
Pilar González-Cabo, Francesc Palau
openaire   +3 more sources

Analysis of Postural Control in Sitting by Pressure Mapping in Patients with Multiple Sclerosis, Spinal Cord Injury and Friedreich’s Ataxia: A Case Series Study

Sensors, 2020
The postural control assessments in patients with neurological diseases lack reliability and sensitivity to small changes in patient functionality. The appearance of pressure mapping has allowed quantitative evaluation of postural control in sitting ...
María Mercedes Reguera-García, Raquel Leirós-Rodríguez, Lorena Álvarez-Barrio, Beatriz Alonso-Cortés Fradejas   +3 more
doaj   +1 more source

Systematic Review: Quantitative Susceptibility Mapping (QSM) of Brain Iron Profile in Neurodegenerative Diseases

Frontiers in Neuroscience, 2021
Iron has been increasingly implicated in the pathology of neurodegenerative diseases. In the past decade, development of the new magnetic resonance imaging technique, quantitative susceptibility mapping (QSM), has enabled for the more comprehensive ...
Parsa Ravanfar, Samantha M. Loi, Samantha M. Loi, Warda T. Syeda, Tamsyn E. Van Rheenen, Tamsyn E. Van Rheenen, Ashley I. Bush, Patricia Desmond, Patricia Desmond, Vanessa L. Cropley, Vanessa L. Cropley, Darius J. R. Lane, Carlos M. Opazo, Bradford A. Moffat, Bradford A. Moffat, Dennis Velakoulis, Dennis Velakoulis, Christos Pantelis, Christos Pantelis   +18 more
doaj   +1 more source

Friedreich Ataxia [PDF]

Journal of Child Neurology, 2012
Friedreich ataxia is a rare disorder characterized by an autosomal recessive pattern of inheritance. The disease is noted for a constellation of clinical symptoms, notably loss of coordination and a variety of neurologic and cardiac complications.
openaire   +3 more sources

Early onset development of hypertrophic cardiomyopathy in less than 1 year in a patient with familial Friedrich's ataxia: Case report

Radiology Case Reports
Friedreich's ataxia (FRDA) is a neurodegenerative disease characterized by progressive ataxia, dysarthria, sensory loss. While neurological symptoms are prominent, cardiac manifestations significantly contribute to mortality. Cardiomyopathy in Friedreich'
Yasmine Ouaddouh, MD, Salma Bouyaddid, MD, Zakaria Bazid, MD, PhD, Nabila Ismaili, MD, PhD, Noha El Ouafi, MD, PhD   +4 more
doaj   +1 more source

Friedreich’s Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

Case Reports in Neurological Medicine, 2018
Friedreich’s ataxia is a neurodegenerative disorder associated with a GAA trinucleotide repeat expansion in intron 1 of the frataxin (FXN) gene. It is the most common autosomal recessive cerebellar ataxia, with a mean age of onset at 16 years.
Vamshi K. Rao, Christine J. DiDonato, Paul D. Larsen   +2 more
doaj   +1 more source

Friedreich's Ataxia and Glucose Metabolism

Pediatric Neurology Briefs, 1988
Glucose metabolism was investigated in 21 patients with FA at the Instituto Neurogico, Cattedra di Clinica Medica, Milan, Italy.
J Gordon Millichap
doaj   +1 more source

Cerebral glucose hypermetabolism in Friedreich's ataxia detected with positron emission tomography [PDF]

, 1990
Local cerebral metabolic rate for glucose was studied with 18 F-2-fluoro-2-deoxy-D-glucose and positron emission tomography (PET) in 22 patients with Friedreich's ataxia and 23 age-matched normal control subjects.
Gilman, Sid, Kluin, Karen J., Junck, Larry, Koeppe, Robert A., Markel, Dorene S.   +4 more
core   +1 more source