Friedreich’s ataxia
Nanoscopic X-ray fluorescence imaging and quantification of intracellular key-elements in cryofrozen Friedreich's ataxia fibroblasts
... Friedreich’s ataxia and disease-control patients were collected with prior consent of patients and no money has been exchanged in whatsoever form to collect the sam- ...
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Friedreich's ataxia: the vicious circle hypothesis revisited
... Friedreich’s ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in ...
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Nanoscopic X-ray imaging and quantification of the iron cellular architecture within single fibroblasts of Friedreich's ataxia patients
... Neurology and Metabolism, Ghent University Hospital, Ghent, Belgium, and i Methusalem program, Ghent University, Ghent, Belgium. *Correspondence e-mail: Bjorn.DeSamber@UAntwerpen.be Friedreich’s ataxia (FRDA) is a ...
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A Defective mRNA Cleavage and Polyadenylation Complex Facilitates Expansions of Transcribed (GAA) n Repeats Associated with Friedreich’s Ataxia
... Expansions of microsatellite repeats are responsible for numerous hereditary diseases in humans, in- cluding myotonic dystrophy and Friedreich’s ataxia. Whereas the length of an expandable repeat is the main ...
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Friedreich's ataxia: the vicious circle hypothesis revisited
... Friedreich’s ataxia, the most frequent progressive autosomal recessive disorder involving the central and peripheral nervous systems, is mostly associated with unstable expansion of GAA trinucleotide repeats in ...
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en fr Understanding Friedreich’s ataxia neuropathophysiology and development of a gene therapy approach using a new mouse model Compréhension de la neurophysiopathologie de l'ataxie de Friedreich et développement d'une approche de thérapie génique dans un nouveau modèle murin
... 6 Liste des figures Figure 26 : Génération de modèles murins conditionnels de l’ataxie de Friedreich. ................... 46 Figure 27 : Modèles murins de l’AF basés sur une expanison GAA. ...
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Deferiprone targets aconitase: Implication for Friedreich's ataxia treatment.
... in Friedreich ataxia pos- sibly at the origin of the hypersensitivity of these cells to oxidative insults – associated or not with an increased mitochondrial iron content – does not protect frataxin ...
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Vestibular impact of Friedreich ataxia in early onset patients.
... Friedreich’s Ataxia: Proof of Concept (ACTFRIE), ...Cooperative Ataxia Rating Scale (ICARS) [ 23 ], the Friedreich Ataxia Rating Scale (FARS) [ 24 ] and the Scale for Assessment and Rating of ...
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Significance of NT-proBNP and High-Sensitivity Troponin in Friedreich Ataxia
... Friedreich’s ataxia (FA) is a rare autosomal recessive mitochondrial disease resulting of a triplet repeat expansion guanine-adenine-adenine (GAA) in the frataxin (FXN) gene, exhibiting progressive cerebellar ...
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Efficience de deux tâches d’intelligibilité pour caractériser la dysarthrie dans l’ataxie de Friedreich
... Friedreich’s Ataxia The present study had three purposes: (1) to assess wether intelligibility could be a clinical severity marker for Friedreich’s Ataxia, by contrasting the MonPaGe intelligibility task ...
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Autosomal recessive cerebellar ataxia caused by mutations in the PEX2 gene.
... truncal ataxia, moderate cerebellar tremor, mild scanning dysarthria, nystagmus, slow saccades without oculo-motor apraxia and ...total ataxia score evaluated by the International Cooperative Ataxia ...
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Regional Brain and Spinal Cord Volume Loss in Spinocerebellar Ataxia Type 3
... Relevant conflicts of interest/financial disclosures: M.C.F. was supported by grants from Brazilian governmental agencies (CNPq and FAPESP). B.v.W. received funding from ZonMW, EU Joint Programme — Neurodegenerative ...
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POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.
... have been associated with neurological syn- dromes that include parkinsonism as a component. A thorough consideration of diseases included in the dif- ferential diagnosis is particularly relevant given the demon- strated ...
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Deciphering Distance-Induced Deceleration of Gait and Ataxia in People with Multiple Sclerosis
... Motor fatigue measurement by distance-induced slow down of walking speed in multiple sclerosis.. A new low cost non intrusive feet tracker.[r] ...
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Telomere length, ATM mutation status and cancer risk in Ataxia-Telangiectasia families
... Study; Kathleen Cuningham Foundation Consortium for Research into Familial Breast Cancer (kConFab); Gene Environment Interaction and Breast Cancer (GENICA); Swedish Breast Cancer Study[r] ...
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The role of frameshifting and transcriptional dysregulation in spinocerebellar ataxia type-3
... transcriptional impairment could be responsible for the degeneration observed in affected fleurons, and since we have shown that in SCA3 this impairment seems to be independent of RNAPII[r] ...
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The multiple molecular facets of fragile X-associated tremor/ataxia syndrome.
... understanding of the possible molecular basis of FXTAS. Review Introduction Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that affects older adults who have a large CGG-repeat ...
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Personality and Neuropsychological Profiles in Friedreich Ataxia
... Friedreich ataxia (FRDA) is an autosomal recessive disease and the most common inherited form of ...sensory ataxia, associated with pyramidal signs (extensor plantar response and spastici- ty), an ...
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Progressive dementia associated with ataxia or obesity in patients with Tropheryma whipplei encephalitis.
... Conclusions: We describe a new clinical condition in patients with dementia and obesity or ataxia linked to T. whipplei that may be cured with antibiotics. Background Whipple’s disease is a paradigm of the ...
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Seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance (SeSAME syndrome) caused by mutations in KCNJ10.
... Definition of a New Clinical Syndrome. In the review of 589 subjects referred for evaluation of Gitelman and Bartter syndromes, we recognized subjects from 3 additional kindreds with features similar to patient 441–1. ...
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