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Friedreich Ataxia

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Longitudinal Increases in Cerebral Brain Activation During Working Memory Performance in Friedreich Ataxia: 24-Month Data from IMAGE-FRDA.

Rosita Shishegar, Ian H Harding, Louise A Corben, Martin B Delatycki, Elsdon Storey, Gary F Egan, Nellie Georgiou-Karistianis,

Friedreich ataxia (FRDA) has been associated with functional abnormalities in cerebral and cerebellar networks, particularly in the ventral attention network. However, how functional alterations change with disease progression remains largely unknown. Longitudinal changes in brain activation, associated with working memory performance (N-back task), and grey matter volume were assessed over ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, 19(2):182-191]

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Genetic Analysis of Hereditary Ataxias in Peru Identifies SCA10 Families with Incomplete Penetrance.

Mario Cornejo-Olivas, Miguel Inca-Martinez, Raphael Machado Castilhos, Gabriel Vasata Furtado, Eduardo Preusser Mattos, Giovana Bavia Bampi, Sandra Leistner-Segal, Victoria Marca, Pilar Mazzetti, Maria Luiza Saraiva-Pereira, Laura Bannach Jardim, ,

Relative frequency of hereditary ataxias remains unknown in many regions of Latin America. We described the relative frequency in spinocerebellar ataxias (SCA) due to (CAG)n and to (ATTCT)n expansions, as well as Friedreich ataxia (FRDA), among cases series of ataxic individuals from Peru. Among ataxic index cases from 104 families ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, 19(2):208-215]

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High levels of frataxin overexpression leads to mitochondrial and cardiac toxicity in mouse models

Brahim Belbellaa, Laurence Reutenauer, Nadia Messaddeq, Laurent Monassier, Hélène Puccio,

ABSTRACT Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death in FA. AAV-mediated gene therapy constitutes a promising approach for FA, as demonstrated in cardiac and neurological mouse models. While the minimal therapeutic ... Read more >>

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Disarrangement of Endoplasmic reticulum-mitochondria communication impairs Ca2+ homeostasis in FRDA

Laura Rodríguez, Pablo Calap-Quintana, Tamara Lapeña-Luzón, Federico Pallardó, Stephan Schneuwly, Juan Navarro, Pilar Gonzalez-Cabo,

Abstract Friedreich ataxia (FRDA) is a neurodegenerative disorder characterized by neuromuscular and neurological manifestations. It is caused by mutations in gene FXN, which results in loss of the mitochondrial protein frataxin. Endoplasmic Reticulum-mitochondria associated membranes (MAMs) are inter-organelle structures involved in the regulation of essential cellular processes, including lipid metabolism ... Read more >>

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A wearable video-oculography based evaluation of saccades and respective clinical correlates in patients with early onset ataxia.

Susanna Summa, Tommaso Schirinzi, Martina Favetta, Alberto Romano, Silvia Minosse, Daria Diodato, Giorgia Olivieri, Diego Martinelli, Andrea Sancesario, Ginevra Zanni, Enrico Castelli, Enrico Bertini, Maurizio Petrarca, Gessica Vasco,

BACKGROUND:Friedreich Ataxia (FRDA) and other inherited chronic ataxias (CAs) are common causes of early onset ataxias (EOA), a group of conditions still lacking effective therapies and biomarkers. Ocular saccades are considered a reliable paradigm of motor control, useful to track the functioning of underlying neural networks and serving as potential ... Read more >>

J. Neurosci. Methods (Journal of neuroscience methods)
[2020, 338:108697]

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The Assessment of Upper Limb Functionality in Friedreich Ataxia via Self-Feeding Activity.

Khoa D Nguyen, Louise A Corben, Pubudu N Pathirana, Malcolm K Horne, Martin B Delatycki, David J Szmulewicz,

The objective assessment of motor impairment resulting from neurological disorders forms the basis for effective rehabilitation and therapeutic programs. Such assessments conducted through the engagement of suitable daily activities can serve as an effective surrogate measure for the assessment of independent living. This study considers an instrumented spoon in the ... Read more >>

IEEE Trans Neural Syst Rehabil Eng (IEEE transactions on neural systems and rehabilitation engineering : a publication of the IEEE Engineering in Medicine and Biology Society)
[2020, :]

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Speech and Language Disorders in Friedreich Ataxia: Highlights on Phenomenology, Assessment, and Therapy.

Tommaso Schirinzi, Andrea Sancesario, Enrico Bertini, Enrico Castelli, Gessica Vasco,

Speech and language disorders are prominent signs in Friedreich ataxia (FRDA), which significantly impact on patients' quality of life. Despite such relevance, several issues regarding phenomenology, assessment, and treatment are still unmet. In this short review, we thus analyzed the existing literature to summarize what is known about the features ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, 19(1):126-130]

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Ocular Involvement in Friedreich Ataxia Patients and its Relationship with Neurological Disability, a Follow-up Study.

Pilar Rojas, Ana I Ramírez, Rosa de Hoz, Manuel Cadena, Antonio Ferreras, Blanca Monsalve, Elena Salobrar-García, José L Muñoz-Blanco, José L Urcelay-Segura, Juan J Salazar, José M Ramírez,

: Background: This study compared functional and structural visual changes in Friedreich ataxia (FRDA) patients with healthy controls (HC) and correlated these changes with neurological disability. METHODS:Eight FRDA Spanish patients and eight HC were selected from 2014 to 2018. Best corrected visual acuity (BCVA), visual field (VF), optic coherence tomography ... Read more >>

Diagnostics (Basel) (Diagnostics (Basel, Switzerland))
[2020, 10(2):]

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Exenatide induces frataxin expression and improves mitochondrial function in Friedreich ataxia.

Mariana Igoillo-Esteve, Ana F Oliveira, Cristina Cosentino, Federica Fantuzzi, Céline Demarez, Sanna Toivonen, Amélie Hu, Satyan Chintawar, Miguel Lopes, Nathalie Pachera, Ying Cai, Baroj Abdulkarim, Myriam Rai, Lorella Marselli, Piero Marchetti, Mohammad Tariq, Jean-Christophe Jonas, Marina Boscolo, Massimo Pandolfo, Décio L Eizirik, Miriam Cnop,

Friedreich ataxia is an autosomal recessive neurodegenerative disease associated with a high diabetes prevalence. No treatment is available to prevent or delay disease progression. Friedreich ataxia is caused by intronic GAA trinucleotide repeat expansions in the frataxin-encoding FXN gene that reduce frataxin expression, impair iron-sulfur cluster biogenesis, cause oxidative stress, ... Read more >>

JCI Insight (JCI insight)
[2020, 5(2):]

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Correlation of Visual Quality of Life With Clinical and Visual Status in Friedreich Ataxia.

Parisa Afsharian, Rachel Nolan-Kenney, Abigail E Lynch, Laura J Balcer, David R Lynch,

BACKGROUND:The primary objective was to determine the association of patient-reported vision-specific quality of life to disease status and visual function in patients with Friedreich's ataxia (FRDA). METHODS:Patients with FRDA were assessed with the 25-Item National Eye Institute Visual Functioning Questionnaire (NEI-VFQ-25) along with measures of disease status (ataxia stage) and ... Read more >>

J Neuroophthalmol (Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society)
[2020, :]

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Multiple mechanisms underpin cerebral and cerebellar white matter deficits in Friedreich ataxia: The IMAGE-FRDA study.

Louisa P Selvadurai, Louise A Corben, Martin B Delatycki, Elsdon Storey, Gary F Egan, Nellie Georgiou-Karistianis, Ian H Harding,

Friedreich ataxia is a progressive neurodegenerative disorder with reported abnormalities in cerebellar, brainstem, and cerebral white matter. White matter structure can be measured using in vivo neuroimaging indices sensitive to different white matter features. For the first time, we examined the relative sensitivity and relationship between multiple white matter indices ... Read more >>

Hum Brain Mapp (Human brain mapping)
[2020, :]

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Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy.

Gillian Rea, Sandya Tirupathi, Jonathan Williams, Penny Clouston, Patrick J Morrison,

Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset ... Read more >>

Cerebellum (Cerebellum (London, England))
[2020, 19(1):161-163]

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Pediatric Neuromuscular Disorders.

Christopher Michel, Christopher Collins,

Neuromuscular disorders are pathologies that can severely affect the quality of life as well as longevity of patients. The most common disorders include cerebral palsy and myelodysplasia. The orthopedic manifestations of these disorders can be treated operatively or nonoperatively. Both focus on the prolongation of mobility and preservation of ambulatory ... Read more >>

Pediatr. Clin. North Am. (Pediatric clinics of North America)
[2020, 67(1):45-57]

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Health related quality of life in Friedreich Ataxia in a large heterogeneous cohort.

Emily Xiong, Abigail E Lynch, Louise A Corben, Martin B Delatycki, S H Subramony, Khalaf Bushara, Christopher M Gomez, J Chad Hoyle, Grace Yoon, Bernard Ravina, Katherine D Mathews, George Wilmot, Theresa Zesiewicz, M Susan Perlman, Jennifer M Farmer, Christian Rummey, David R Lynch,

INTRODUCTION:This study assessed the Health Related Quality of Life (HRQOL) of individuals with Friedreich Ataxia (FRDA) through responses to HRQOL questionnaires. METHODS:The SF-36, a generic HRQOL instrument, and symptom specific scales examining vision, fatigue, pain and bladder function were administered to individuals with FRDA and analyzed by comparison with disease ... Read more >>

J. Neurol. Sci. (Journal of the neurological sciences)
[2020, 410:116642]

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Pulse-Field capillary electrophoresis of repeat-primed PCR amplicons for analysis of large repeats in Spinocerebellar Ataxia Type 10.

Vera Hashem, Anjana Tiwari, Brittani Bewick, Helio A G Teive, Mariana Moscovich, Birgitt Schüele, Khalaf Bushara, Matt Bower, Astrid Rasmussen, Yu-Chih Tsai, Tyson Clark, Karen McFarland, Tetsuo Ashizawa,

Large expansions of microsatellite DNA cause several neurological diseases. In Spinocerebellar ataxia type 10 (SCA10), the repeat interruptions change disease phenotype; an (ATTCC)n or a (ATCCT)n/(ATCCC)n interruption within the (ATTCT)n repeat is associated with the robust phenotype of ataxia and epilepsy while mostly pure (ATTCT)n may have reduced penetrance. Large ... Read more >>

PLoS ONE (PloS one)
[2020, 15(3):e0228789]

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Genetic testing in neurology exploiting next generation sequencing: state of art.

Chiara Di Resta, Maurizio Ferrari,

Neural Regen Res (Neural regeneration research)
[2020, 15(2):265-266]

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Neurochemical profiles in hereditary ataxias: A meta-analysis of Magnetic Resonance Spectroscopy studies.

Janna Krahe, Ferdinand Binkofski, Jörg B Schulz, Kathrin Reetz, Sandro Romanzetti,

Magnetic resonance spectroscopy (MRS) is applied to investigate the neurochemical profiles of degenerative hereditary ataxias. This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date. From each study, changes in N-acetyl aspartate (NAA), choline-containing compounds (Cho) and myo-Inositol ... Read more >>

Neurosci Biobehav Rev (Neuroscience and biobehavioral reviews)
[2020, 108:854-865]

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Age of onset determines intrinsic functional brain architecture in Friedreich ataxia.

Gilles Naeije, Vincent Wens, Nicolas Coquelet, Martin Sjøgård, Serge Goldman, Massimo Pandolfo, Xavier P De Tiège,

OBJECTIVE:Friedreich ataxia (FRDA) is the commonest hereditary ataxia in Caucasians. Most patients are homozygous for expanded GAA triplet repeats in the first intron of the frataxin (FXN) gene, involved in mitochondrial iron metabolism. Here, we used magnetoencephalography (MEG) to characterize the main determinants of FRDA-related changes in intrinsic functional brain ... Read more >>

Ann Clin Transl Neurol (Annals of clinical and translational neurology)
[2020, 7(1):94-104]

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Predictors of loss of ambulation in Friedreich's ataxia.

Christian Rummey, Jennifer M Farmer, David R Lynch,

Background:Friedreich's ataxia (FRDA) is a characterized by progressive loss of coordination and balance leading to loss of ambulation (LoA) in nearly all affected individuals. While transition to becoming fully wheelchair bound is a critical milestone in the disease course, it presents a particularly challenging prediction, mostly due to variability in ... Read more >>

EClinicalMedicine (EClinicalMedicine)
[2020, 18:100213]

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Rating scales for rare neurological diseases: What are we learning from Friedreich ataxia?

Massimo Pandolfo,

Neurol Genet (Neurology. Genetics)
[2019, 5(6):e380]

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Electrophysiological evidence for limited progression of the proprioceptive impairment in Friedreich ataxia.

G Naeije, M Bourguignon, V Wens, B Marty, S Goldman, R Hari, V Jousmäki, M Pandolfo, X De Tiège,

Clin Neurophysiol (Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology)
[2020, 131(2):574-576]

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Frequency and Genetic Profile of Compound Heterozygous Friedreich's Ataxia Patients-the Brazilian Experience.

Thiago Mazzo Peluzzo, Luciana Cardoso Bonadia, Amanda Donatti, Miriam Coelho Molck, Laura Bannach Jardim, Wilson Marques, Iscia Teresinha Lopes-Cendes, Marcondes C França,

Friedreich ataxia (FRDA) is the most common autosomal recessive ataxia in Caucasian populations. It is caused by a homozygous GAA expansion in the first intron of the frataxin gene (FXN) (OMIM: 606829) in 96% of the affected individuals. The remaining patients have a GAA expansion in one allele and a ... Read more >>

Cerebellum (Cerebellum (London, England))
[2019, 18(6):1143-1146]

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Complicated paroxysmal kinesigenic dyskinesia associated with SACS mutations.

Qiang Lu, Liang Shang, Wo Tu Tian, Li Cao, Xue Zhang, Qing Liu,

Background:Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is caused by pathogenic variants in the SACS gene and is characterized by ataxia, peripheral neuropathy, pyramidal impairment and episodic conditions such as epilepsy. Paroxysmal kinesigenic dyskinesia (PKD) had not been previously described in ARSACS. Methods:We analyzed clinical manifestations and performed whole-exome sequencing ... Read more >>

Ann Transl Med (Annals of translational medicine)
[2020, 8(1):8]

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Induced pluripotent stem cell-derived primary proprioceptive neurons as Friedreich ataxia cell model

Chiara Dionisi, Myriam Rai, Marine Chazalon, Serge Schiffmann, Massimo Pandolfo,

Abstract Human induced pluripotent stem cells (iPSCs) are used to generate models of human diseases that recapitulate the pathogenic process as it occurs in affected cells. Many differentiated cell types can currently be obtained from iPSCs, but no validated protocol is yet available to specifically generate primary proprioceptive neurons. Proprioceptors ... Read more >>

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The History of Deferiprone (L1) and the Paradigm of the Complete Treatment of Iron Overload in Thalassaemia.

George J Kontoghiorghes, Marios Kleanthous, Christina N Kontoghiorghe,

Deferiprone (L1) was originally designed, synthesised and screened in vitro and in vivo in 1981 by Kontoghiorghes G. J. following his discovery of the novel alpha-ketohydroxypyridine class of iron chelators (1978-1981), which were intended for clinical use. The journey through the years for the treatment of thalassaemia with L1 has ... Read more >>

Mediterr J Hematol Infect Dis (Mediterranean journal of hematology and infectious diseases)
[2020, 12(1):e2020011]

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