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Ocular Telangiectasia and Cerebellar Atrophy in Ataxia-Telangiectasia (Louis-Bar Syndrome).
Tremor Other Hyperkinet Mov (N Y)
January 2025
Department of Neurology, Medical University of Graz, Graz, Austria.
Background: Ataxia-telangiectasia (Louis-Bar syndrome) is a rare genetic disorder characterized by progressive ataxia, ocular telangiectasias, immunodeficiency and increased cancer risk due to impaired DNA repair.
Phenomenology Shown: Thorough clinical and subsequently radiological examination in a 19-year-old woman with a history of previously undiagnosed, progressive gait ataxia since early childhood, diffuse large B-cell lymphoma and severe combined immunodeficiency revealed the eponymous features of the disease, ocular telangiectasias and cerebellar atrophy, enabling targeted genetic testing.
Educational Value: Ocular telangiectasias represent an important clue for a diagnosis of ataxia-telangiectasia in young patients with progressive ataxia, implicating awareness of increased malignancy risk and treatment of immunodeficiency.
Long-Term Survivor with Paraneoplastic Cerebellar Ataxia and Small-Cell Lung Cancer.
J Clin Med
January 2025
Department of Clinical Therapeutics, Alexandra General Hospital, School of Medicine, National and Kapodistrian University of Athens, 11528 Athens, Greece.
Paraneoplastic cerebellar degeneration (PCD) is an inflammatory autoimmune process caused by onconeural antibodies directed against cerebellar Purkinje cells. In most cases, prognosis is poor as disease progression leads to pancerebellar dysfunction and permanent neurological damage. Through this case report, we aim to highlight the clinical presentation, diagnostic process, and therapeutic implications associated with PCD secondary to SCLC.
View Article and Find Full Text PDFNeuroprotective Effects of VEGF-B in a Murine Model of Aggressive Neuronal Loss with Childhood Onset.
Int J Mol Sci
January 2025
Laboratory of Neuronal Plasticity and Neurorepair, Institute of Neuroscience of Castile and Leon (INCyL), Universidad de Salamanca, 37007 Salamanca, Spain.
In recent decades, the scientific community has faced a major challenge in the search for new therapies that can slow down or alleviate the process of neuronal death that accompanies neurodegenerative diseases. This study aimed to identify an effective therapy using neurotrophic factors to delay the rapid and aggressive cerebellar degeneration experienced by the Purkinje Cell Degeneration (PCD) mouse, a model of childhood-onset neurodegeneration with cerebellar atrophy (CONDCA). Initially, we analyzed the changes in the expression of several neurotrophic factors related to the degenerative process itself, identifying changes in insulin-like growth factor 1 (IGF-1) and Vascular Endothelial Growth Factor B (VEGF-B) in the affected animals.
View Article and Find Full Text PDFDepression and Associated Factors Among Patients with Spinocerebellar Ataxia.
Medicina (Kaunas)
January 2025
Suanprug Hospital, Chang Wat Ratchaburi 70180, Thailand.
Spinocerebellar ataxia (SCA) is a progressive neurodegenerative disease often accompanied by depression. This cross-sectional study investigated the prevalence of depression and the associated mental health factors in SCA patients. Eleven Thai SCA patients completed questionnaires assessing depression, anxiety, inner strengths, perceived social support, personality traits and perceived stress.
View Article and Find Full Text PDFAssessment of Peripheral Neuropathy Using Current Perception Threshold Measurement in Patients with Spinocerebellar Ataxia Type 3.
Cerebellum
January 2025
Department of Neurology, Fujian Key Laboratory of Molecular Neurology, Fujian Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Key Laboratory of Brain Aging and Neurodegenerative Diseases of Fujian Medical University, 20 Chazhong Road, Fuzhou, 350005, China.
Peripheral neuropathy (PN) identified as a significant contributor to disability in Spinocerebellar ataxia type 3 (SCA3) patients. This study seeks to assess the utility of current perception threshold (CPT) measurements in evaluating PN in individuals with SCA3 and aims to identify factors influencing CPT values in SCA3 and ascertain whether these values correlate with the severity of ataxia. Ninety-four patients diagnosed with SCA3 and 44 healthy controls were recruited for this investigation.
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