Optic ataxia is considered to be a specific visuo-manual guidance deficit, which combines pointing errors due to the use of the contralesional hand ("hand effect") and to the presentation of the visual target in the contralesional field ("field effect"). The nature of the hand effect has not been identified. The field effect is acknowledged as an impaired spatial integration of visual target location. However, spatial integration of proprioceptive information from the arm has never been experimentally tested in these patients. Here, we specifically investigated the capacity of two patients with unilateral optic ataxia in tasks requiring different levels of proprioceptive integration from primary information processing to proprioceptivo-motor integration. In a first experiment -proprioceptive pointing with the ipsilesional hand toward the index finger of the contralesional hand- revealed a large mislocalisation of the ataxic hand accounting for the hand effect. In a second experiment -proprioceptive pointing with the ataxic arm toward the finger of the ipsilesional hand- revealed reaching errors for non-visual targets, i.e. optic ataxia is not specific to 'optic' targets. Altogether, the present results call for a redefinition of this neurological condition in the framework of parietal functions.
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Cureus
December 2024
Pediatrics, Dr. D. Y. Patil Medical College, Hospital, and Research Centre, Dr. D. Y. Patil Vidyapeeth (Deemed to be University), Pune, IND.
Miller Fisher syndrome (MFS) is a rare Guillain-Barré syndrome (GBS) variant. The global incidence of GBS is approximately one to two in 100,000 children (aged 0 to 15 years) per year. Miller Fisher syndrome represents a further small subset, with the incidence being one to two in 1,000,000 children.
View Article and Find Full Text PDFHum Genome Var
January 2025
Sabin Diagnóstico e Saúde, Brasília, DF, Brazil.
Here, we report the case of a 29-year-old male with classic Pelizaeus-Merzbacher disease (PMD) harboring the PLP1 variant NM_000533.5:c.62 C > T, leading to an NP_000524.
View Article and Find Full Text PDFJ Am Anim Hosp Assoc
January 2025
From Veterinary Neurological Center "La Fenice," Selargius, Italy (I.T., F.T., A.G.).
An 8 yr old, male, mixed-breed dog was presented with a 2 mo history of progressive weakness, worsened in the last 2 days before examination. Neurological examination revealed ambulatory tetraparesis, ataxia, and proprioceptive deficits in all four limbs. Menace response was reduced in the right eye and discomfort was detected on neck manipulation.
View Article and Find Full Text PDFRetin Cases Brief Rep
December 2024
Department of Ophthalmology and Visual Neurosciences, University of Minnesota, Minneapolis, MN, USA.
Purpose: To report the clinical presentation, treatment course, and outcome of a case of bilateral frosted branch angiitis (FBA) and neuroretinitis associated with acute Epstein-Barr virus (EBV) infection in a pediatric patient with Turner Syndrome.
Methods: Case report with multimodal ocular imaging and extensive systemic workup.
Results: A 16-year-old female with Turner syndrome presented with acute bilateral vision loss, hearing loss, and ataxia.
Front Immunol
December 2024
Department of Neurology, University Hospital Ulm, Ulm, Germany.
Introduction: Very rarely, adult NMDAR antibody-associated encephalitis (NMDAR-E) leads to persistent cerebellar atrophy and ataxia. Transient cerebellar ataxia is common in pediatric NMDAR-E. Immune-mediated cerebellar ataxia may be associated with myelin oligodendrocyte glycoprotein (MOG), aquaporin-4 (AQP-4), kelch-like family member 11 (KLHL11), and glutamate kainate receptor subunit 2 (GluK2) antibodies, all of which may co-occur in NMDAR-E.
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