Results 11 to 20 of about 4,355 (175)
Functional and Gait Assessment in Children and Adolescents Affected by Friedreich's Ataxia: A One-Year Longitudinal Study. [PDF]
PLoS ONE, 2016 Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the ...
Gessica Vasco +8 more
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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
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A Case of Ataxia with Isolated Vitamin E Deficiency Initially Diagnosed as Friedreich’s Ataxia [PDF]
Case Reports in Neurological Medicine, 2016 Ataxia with isolated vitamin E deficiency (AVED) is a rare autosomal recessive condition that is caused by a mutation in the alpha tocopherol transfer protein gene.
Michael Bonello, Partha Ray
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5-Hydroxytryptophan in Friedreich’s Ataxia
Pediatric Neurology Briefs, 1995 The effect of the levorotatory form of 5-hydroxytryptophan (approx 1 gm/day/orally) on cerebellar symptoms in 26 patients with Friedreich’s ataxia was evaluated in a double-blind drug-placebo study by the Ataxia Research Center, Hopital Neurologique ...
J Gordon Millichap
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Life-Threatening Adverse Reaction after Self-Initiated, Off-Label Use of High Dose Nicotinamide for the Treatment of Friedreich’s Ataxia [PDF]
European Journal of Case Reports in Internal Medicine, 2015 A 40-year old woman, previously known for Friedreich’s ataxia, presented with shock, profound lactic acidosis and hepatic failure after ingestion of a high dose of nicotinamide, the amide form of vitamin B3.
Nicolas Garin, Pierre Arnold
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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
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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
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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
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Frataxin gene editing rescues Friedreich’s ataxia pathology in dorsal root ganglia organoid-derived sensory neurons [PDF]
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 +19 more
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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 +2 more
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