NEUROLOGICAL DISORDER AMONG PREMUTATION CARRIERS OF FRAGILE X SYNDROME AT SEMIN, GUNUNG KIDUL REGENCY [PDF]
, 2010 Background: Neurological disorder among male premutation carriers of Fragile X Syndrome (FXS) frequently occurs. In other hand, lacking of information results misdiagnosis of this disorder.
Ardiansyah, Rivaldi
core
Large Interruptions of GAA Repeat Expansion Mutations in Friedreich Ataxia Are Very Rare
Frontiers in Cellular Neuroscience, 2018 Friedreich ataxia is a multi-system autosomal recessive inherited disorder primarily caused by homozygous GAA repeat expansion mutations within intron 1 of the frataxin gene. The resulting deficiency of frataxin protein leads to progressive mitochondrial
Sahar Al-Mahdawi +9 more
doaj +1 more source
Results of a randomized double‐blind study evaluating luvadaxistat in adults with Friedreich ataxia
Annals of Clinical and Translational Neurology, 2021 Objectives Friedreich ataxia (FRDA) is a rare disorder with progressive neurodegeneration and cardiomyopathy. Luvadaxistat (also known as TAK‐831; NBI‐1065844), an inhibitor of the enzyme d‐amino acid oxidase, has demonstrated beneficial effects in ...
Hao Wang +7 more
doaj +1 more source
Dyclonine rescues frataxin deficiency in animal models and buccal cells of patients with Friedreich's ataxia. [PDF]
, 2014 Inherited deficiency in the mitochondrial protein frataxin (FXN) causes the rare disease Friedreich's ataxia (FA), for which there is no successful treatment. We identified a redox deficiency in FA cells and used this to model the disease.
Al-Mahdawi +78 more
core +1 more source
Sensorimotor processing for balance in spinocerebellar ataxia type 6. [PDF]
, 2015 We investigated whether balance impairments caused by cerebellar disease are associated with specific sensorimotor processing deficits that generalize across all sensory modalities.
Bunn, LM +4 more
core +1 more source
E-survey of current international physiotherapy practice for children with ataxia following surgical resection of posterior fossa tumour. [PDF]
, 2018 ObjectiveTo determine current international practice regarding physiotherapy input for children with ataxia following surgery for posterior fossa tumour.
Bunn, Lisa +6 more
core +7 more sources
Are Gait Stereotypies a Marker for Neurodegeneration in Down Syndrome? A Prospective Observation
Tremor and Other Hyperkinetic Movements, 2016 No abstract necessary for Letters.
José L. Pedroso +2 more
doaj +1 more source
The Turkish Journal of Pediatrics, 2021 Background. West Nile virus (WNV) is an uncommon arbovirus infection and is usually asymptomatic in pediatric patients and due to its rarity is not very well known by clinicians. Case.
Senem Ayça +3 more
doaj +1 more source
Immune Ataxias: The Continuum of Latent Ataxia, Primary Ataxia and Clinical Ataxia
Journal of Integrative NeuroscienceThe clinical category of immune-mediated cerebellar ataxias (IMCAs) is now recognized after 3 decades of clinical and experimental research. The cerebellum gathers about 60% of neurons in the brain, is enriched in numerous plasticity mechanisms, and presents a large variety of antigens at the neuroglial level: ion channels and related proteins ...
Mario Manto, Hiroshi Mitoma
openaire +3 more sources
Test–retest reliability of the Friedreich’s ataxia rating scale
Annals of Clinical and Translational Neurology, 2020 The modified Friedreich Ataxia Rating Scale (mFARS) is a disease specific, exam‐based neurological rating scale commonly used as a outcome measure in clinical trials.
Christian Rummey +5 more
doaj +1 more source