Results 31 to 40 of about 81,081 (302)
Frataxin deficiency increases cyclooxygenase 2 and prostaglandins in cell and animal models of Friedreich's ataxia. [PDF]
, 2014 An inherited deficiency of the mitochondrial protein frataxin causes Friedreich's ataxia (FRDA); the mechanism by which this deficiency triggers neuro- and cardio-degeneration is unclear.
Cortopassi, Gino +5 more
core +4 more sources
Progressive Supranuclear Palsy with Predominant Cerebellar Ataxia [PDF]
Journal of Movement Disorders, 2020 Progressive supranuclear palsy (PSP) is characterized by supranuclear gaze palsy, dystonic rigidity of the neck and upper trunk, frequent falls and mild cognitive impairment.
Shoichiro Ando +2 more
doaj +1 more source
A novel mutation in isoform 3 of the plasma membrane Ca2+ pump impairs cellular Ca2+ homeostasis in a patient with cerebellar ataxia and laminin subunit 1\u3b1 mutations. [PDF]
, 2015 The particular importance of Ca2+ signaling to neurons demands its precise regulation within their cytoplasm. Isoform 3 of the plasma membrane Ca2+ ATPase (the PMCA3 pump), which is highly expressed in brain and cerebellum, plays an important role in the
Brini, Marisa +9 more
core +1 more source
Self-reported gait unsteadiness in mildly impaired neurological patients: an objective assessment through statistical gait analysis [PDF]
, 2012 Background Self-reported gait unsteadiness is often a problem in neurological patients without any clinical evidence of ataxia, because it leads to reduced activity and limitations in function.
Agostini, Valentina +5 more
core +3 more sources
Frontiers in Neurology, 2023 ObjectiveTo determine the effectiveness of transcranial magnetic stimulation in improving cerebellar ataxia.Data sourcesPubMed, EMBASE, the Cochrane Library, Springer, Science Direct, the China National Knowledge Infrastructure (CNKI) and the China ...
Ying Wang +5 more
doaj +1 more source
Autosomal recessive cerebellar ataxias [PDF]
Orphanet Journal of Rare Diseases, 2006 Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset ...
Palau Francesc, Espinós Carmen
openaire +3 more sources
Frontiers in ImmunologyIntroductionVery 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
Sarah Jesse +29 more
doaj +1 more source
COQ8A-Ataxia as a Manifestation of Primary Coenzyme Q Deficiency
Metabolites, 2022 COQ8A-ataxia is a mitochondrial disease in which a defect in coenzyme Q10 synthesis leads to dysfunction of the respiratory chain. The disease is usually present as childhood-onset progressive ataxia with developmental regression and cerebellar atrophy ...
Justyna Paprocka +3 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 2015 Cerebellar ataxias represent a wide group of neurological diseases secondary to dysfunctions of cerebellum or its associated pathways, rarely coursing with acute-onset acquired etiologies and chronic non-progressive presentation.
Wladimir Bocca Vieira de Rezende Pinto +4 more
doaj +1 more source
Cerebellar ataxia with sensory ganglionopathy; does autoimmunity have a role to play? [PDF]
, 2017 Background and purpose: Cerebellar ataxia with sensory ganglionopathy (SG) is a disabling combination of neurological dysfunction usually seen as part of some hereditary ataxias. However, patients may present with this combination without a genetic cause.
A Mignarri +12 more
core +1 more source