WITHDRAWN: Ataxia, Ophthalmoplegia, and Impairment of Consciousness in a 19 Month-old American Boy
The Publisher regrets that this article is an accidental duplication of an article that has already been published, http://dx.doi.org/10.1016/j.spen.2014.04.015. The duplicate article has therefore been withdrawn.The full Elsevier Policy on Article Withdrawal can be found at http://www.elsevier.com/locate/withdrawalpolicy.
Abstract Cerebral palsy, which occurs in two to three out of 1,000 live births, has multiple etiologies resulting in brain injury that affects movement, posture, and balance. The movement disorders associated with cerebral palsy are categorized as spasticity, dyskinesia, ataxia, or mixed/other. Spasticity is the most common movement disorder, occurring in 80% of children with cerebral palsy. Movement disorders of cerebral palsy can result in secondary problems, including hip pain or dislocation, balance problems, hand dysfunction, and equinus deformity. Diagnosis of cerebral palsy is primarily clinical, but magnet...
This report illustrates that a spectrum of disorders with distinct clinical symptoms may result from mutations in different parts ofKCNJ10, a gene initially associated only with the EAST/SeSAME syndrome.
In conclusion, these data indicate in vivo efficacy of HCSCs in the reestablishment of motor skills and reversal of CA.
Conditions: Spinocerebellar Ataxia Type 1; Spinocerebellar Ataxia Type 2; Spinocerebellar Ataxia Type 3; Spinocerebellar Ataxia Type 6; Friedreich Ataxia Intervention: Sponsors: University of Chicago; Pfizer; Biogen; APDM Wearable Technologies Recruiting
Publication date: Available online 11 February 2020Source: Redox BiologyAuthor(s): Stamatia Laidou, Gregorio Alanis-Lobato, Jan Pribyl, Tamás Raskó, Boris Tichy, Kamil Mikulasek, Maria Tsagiopoulou, Jan Oppelt, Georgia Kastrinaki, Maria Lefaki, Manvendra Singh, Annika Zink, Niki Chondrogianni, Fotis Psomopoulos, Alessandro Prigione, Zoltan Ivics, Sarka Pospisilova, Petr Skladal, Zsuzsanna Izsvák, Miguel A. Andrade-NavarroAbstractSpinocerebellar ataxia type-1 (SCA1) is caused by an abnormally expanded polyglutamine (polyQ) tract in ataxin-1. These expansions are responsible for protein misfolding and se...
Abstract Many reaching actions involve both hands. An open question is whether two-handed reaching involves two simultaneous, independent unimanual reaches, or recruits additional or different processes than those mediating one-handed reaching. We tested optic ataxic patient MDK on a set of unimanual and bimanual reaching tasks. Although MDK was impaired in both types of reaching task, his bimanual reaching was considerably better than his unimanual reaching. These results imply that bimanual reaching involves different or additional processes relative to unimanual reaching. We suggest that bimanual reaching may i...
ConclusionLoss of GPI-anchored proteins on our patients' cells confirms that the yeast Arv1 function of GPI-anchor synthesis is conserved in humans. Overlap between the phenotypes in our patients and those reported for other GPI-anchor disorders suggests that ARV1-deficiency is a GPI-anchor synthesis disorder.
Authors: Beigi F, Del Pozo-Valero M, Martin-Merida I, Vahidi Mehrjardi MY, Manaviat MR, Sherafat A, Ayuso C, Ghasemi N PMID: 32039643 [PubMed - as supplied by publisher]
ConclusionsGiven the reversibility of clinical manifestations, HE should be in the differential diagnosis at presence of these symptoms or other involuntary movements, in a patient with unexplained seizures or encephalopathy.
ConclusionThe clinical presentation and genetic studies confirmed a diagnosis of Cockayne syndrome in both sisters caused by compound heterozygous mutations in theERCC8 gene on chromosome 10. Multimodal ocular imaging and systemic findings revealed wide phenotypic variability between the affected siblings.