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Page 1
Emerging therapies in Friedreich's Ataxia.
Zesiewicz TA, Hancock J, Ghanekar SD, Kuo SH, Dohse CA, Vega J. Zesiewicz TA, et al. Expert Rev Neurother. 2020 Dec;20(12):1215-1228. doi: 10.1080/14737175.2020.1821654. Epub 2020 Sep 21. Expert Rev Neurother. 2020. PMID: 32909841 Free PMC article. Review.
INTRODUCTION: Friedreich's ataxia (FRDA) is a progressive, neurodegenerative disease that results in gait and limb ataxia, diabetes, cardiac hypertrophy, and scoliosis. At the cellular level, FRDA results in the deficiency of frataxin, a mitochondrial protein that p …
INTRODUCTION: Friedreich's ataxia (FRDA) is a progressive, neurodegenerative disease that results in gait and limb ataxia, dia …
Cerebellar ataxia rehabilitation trial in degenerative cerebellar diseases.
Miyai I, Ito M, Hattori N, Mihara M, Hatakenaka M, Yagura H, Sobue G, Nishizawa M; Cerebellar Ataxia Rehabilitation Trialists Collaboration. Miyai I, et al. Neurorehabil Neural Repair. 2012 Jun;26(5):515-22. doi: 10.1177/1545968311425918. Epub 2011 Dec 2. Neurorehabil Neural Repair. 2012. PMID: 22140200 Clinical Trial.
METHODS: A total of 42 patients with pure cerebellar degeneration were randomly assigned to the immediate group or the delayed-entry control group. ...RESULTS: The immediate group showed significantly greater functional gains in ataxia, gait speed, and ADLs than the contro …
METHODS: A total of 42 patients with pure cerebellar degeneration were randomly assigned to the immediate group or the delayed-entry …
Gluten-related disorders: gluten ataxia.
Hadjivassiliou M, Sanders DD, Aeschlimann DP. Hadjivassiliou M, et al. Dig Dis. 2015;33(2):264-268. doi: 10.1159/000369509. Epub 2015 Apr 22. Dig Dis. 2015. PMID: 25925933 Review.
The term gluten-related disorders (GRD) refers to a spectrum of diverse clinical manifestations triggered by the ingestion of gluten in genetically susceptible individuals. ...GA has a prevalence of 15% amongst all ataxias and 40% of all idiopathic sporadic ataxias. It usu …
The term gluten-related disorders (GRD) refers to a spectrum of diverse clinical manifestations triggered by the ingestion of gluten …
Diagnosis and treatment of Friedreich ataxia: a European perspective.
Schulz JB, Boesch S, Bürk K, Dürr A, Giunti P, Mariotti C, Pousset F, Schöls L, Vankan P, Pandolfo M. Schulz JB, et al. Nat Rev Neurol. 2009 Apr;5(4):222-34. doi: 10.1038/nrneurol.2009.26. Nat Rev Neurol. 2009. PMID: 19347027 Review.
This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-limb areflexia, decreased vibration sense, muscular weakness in the legs, and a positive extensor plantar response. ...Mitochondrial dysfunctio …
This autosomal-recessive neurodegenerative disease is characterized by progressive gait and limb ataxia, dysarthria, lower-lim …
Molecular Mechanisms and Therapeutics for the GAA·TTC Expansion Disease Friedreich Ataxia.
Gottesfeld JM. Gottesfeld JM. Neurotherapeutics. 2019 Oct;16(4):1032-1049. doi: 10.1007/s13311-019-00764-x. Neurotherapeutics. 2019. PMID: 31317428 Free PMC article. Review.
Frataxin insufficiency leads to progressive spinocerebellar neurodegeneration, causing symptoms of gait and limb ataxia, slurred speech, muscle weakness, sensory loss, and cardiomyopathy in many patients, resulting in death in early adulthood. ...
Frataxin insufficiency leads to progressive spinocerebellar neurodegeneration, causing symptoms of gait and limb ataxia, slurr …
Multifeature quantitative motor assessment of upper limb ataxia including drawing and reaching.
Hermle D, Schubert R, Barallon P, Ilg W, Schüle R, Reilmann R, Synofzik M, Traschütz A. Hermle D, et al. Ann Clin Transl Neurol. 2024 May;11(5):1097-1109. doi: 10.1002/acn3.52024. Epub 2024 Apr 8. Ann Clin Transl Neurol. 2024. PMID: 38590028 Free PMC article.
OBJECTIVE: Voluntary upper limb movements are an ecologically important yet insufficiently explored digital-motor outcome domain for trials in degenerative ataxia. We extended and validated the trial-ready quantitative motor assessment battery "Q-Motor" for upper limb move …
OBJECTIVE: Voluntary upper limb movements are an ecologically important yet insufficiently explored digital-motor outcome domain for trials …
Wernicke's encephalopathy after cardiac surgery.
Nishimura Y. Nishimura Y. Asian Cardiovasc Thorac Ann. 2018 May;26(4):302-304. doi: 10.1177/0218492318772693. Epub 2018 Apr 18. Asian Cardiovasc Thorac Ann. 2018. PMID: 29667898
On the 4th postoperative day, she experienced a sudden disturbance of consciousness, aphasia, and limb ataxia. Brain computed tomography and magnetic resonance imaging showed no abnormalities. ...
On the 4th postoperative day, she experienced a sudden disturbance of consciousness, aphasia, and limb ataxia. Brain computed …
Electrocardiogram in Friedreich's ataxia: A short-term surrogate endpoint for treatment efficacy.
Mastroianno S, Germano M, Maggio A, Massaro R, Potenza DR, Russo A, Carella M, Di Stolfo G. Mastroianno S, et al. Ann Noninvasive Electrocardiol. 2021 Jul;26(4):e12813. doi: 10.1111/anec.12813. Epub 2020 Nov 5. Ann Noninvasive Electrocardiol. 2021. PMID: 33151022 Free PMC article.
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) gene, with a broad clinical phenotype characterized by progressive gait and limb ataxia, dysarthria, and loss of lower …
Friedreich's ataxia is a rare degenerative neuromuscular disorder, caused by a homozygous GAA triplet repeat expansion in the frataxin (FXN) …
Physiological and anatomical decomposition of subthalamic neurostimulation effects in essential tremor.
Groppa S, Herzog J, Falk D, Riedel C, Deuschl G, Volkmann J. Groppa S, et al. Brain. 2014 Jan;137(Pt 1):109-21. doi: 10.1093/brain/awt304. Epub 2013 Nov 25. Brain. 2014. PMID: 24277721
Postural tremor is the leading symptom in essential tremor, but in some cases intention tremor and limb ataxia emerge and can become highly disabling features. Deep brain stimulation of the thalamus or subthalamic white matter improve tremor and ataxia; however, the …
Postural tremor is the leading symptom in essential tremor, but in some cases intention tremor and limb ataxia emerge and can …
Whole brain radiotherapy for the treatment of newly diagnosed multiple brain metastases.
Tsao MN, Lloyd N, Wong RK, Chow E, Rakovitch E, Laperriere N, Xu W, Sahgal A. Tsao MN, et al. Cochrane Database Syst Rev. 2012 Apr 18;2012(4):CD003869. doi: 10.1002/14651858.CD003869.pub3. Cochrane Database Syst Rev. 2012. PMID: 22513917 Free PMC article. Updated. Review.
Presenting symptoms include headache (49%), focal weakness (30%), mental disturbances (32%), gait ataxia (21%), seizures (18%), speech difficulty (12%), visual disturbance (6%), sensory disturbance (6%) and limb ataxia (6%).Brain metastases may spread from any prima …
Presenting symptoms include headache (49%), focal weakness (30%), mental disturbances (32%), gait ataxia (21%), seizures (18%), speech diffi …
51 results