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Friedreich Ataxia: An (Almost) 30-Year History After Gene Discovery.
Neurol Genet
February 2025
Department of Neurology and Neurosurgery, McGill University, Montreal, Canada.
In the late 1800s, Nikolaus Friedreich first described "degenerative atrophy of the posterior columns of the spinal cord," noting its connection to progressive ataxia, sensory loss, and muscle weakness, now recognized as Friedreich ataxia (FRDA). Renewed interest in the disease in the 1970s and 80s by the Quebec Cooperative Group and by Anita Harding led to the development of clinical diagnostic criteria and insights into associated biochemical abnormalities, although the primary defect remained unknown. In 1988, Susan Chamberlain mapped FRDA's location on chromosome 9.
View Article and Find Full Text PDFDistribution of spinal damage in patients with axial spondyloarthritis as assessed by MRI: a prospective and blinded study.
Arthritis Res Ther
January 2025
Division of Rheumatology and Immunology, Department of Internal Medicine, Medical University of Graz, Auenbruggerplatz 15, Graz, 8036, Austria.
Background: Axial spondyloarthritis (SpA) leads to structural bone lesions in every part of the vertebral column. These lesions are only partially visualized on conventional radiographs, omitting posterior parts of the vertebral column and the thoracic spine, that may nevertheless contribute to impaired spinal mobility and function in patients with axial SpA.
Methods: In this prospective and blinded investigation, we assessed the distribution of structural spinal lesions using magnetic resonance imaging (MRI) of the whole spine in 55 patients with axial SpA classified according to the Assessment in Spondyloarthritis International Society (ASAS) criteria.
Transoral resection of a symptomatic odontoid process aneurysmal bone cyst: illustrative case.
J Neurosurg Case Lessons
January 2025
Departments of Neurosurgery, NYU Langone Health, New York, New York.
Background: Aneurysmal bone cysts (ABCs) are slow-growing, expansile bone tumors most often observed in the long bones and lumbar and thoracic spine. Anterior column ABCs of the spine are rare, and few cases have described their surgical management, particularly for lesions with extension into the odontoid process and the bilateral C2 pedicles. In the present case, the authors describe a two-stage strategy for resection of a symptomatic 2.
View Article and Find Full Text PDFPain is a dynamic and nonlinear experience shaped by injury and contextual factors, including expectations of future pain or relief . While µ opioid receptors are central to the analgesic effects of opioid drugs, the endogenous opioid neurocircuitry underlying pain and placebo analgesia remains poorly understood. The ventrolateral column of the posterior periaqueductal gray is a critical hub for nociception and endogenous analgesia mediated by opioid signaling .
View Article and Find Full Text PDFUbiquitin-Associated Protein 1 (UBAP1) Gene Mutation in a 36-Year-Old Filipino Male With Spastic Paraplegia: A Case Report.
Cureus
January 2025
Department of Internal Medicine, Section of Neurology, Chong Hua Hospital, Cebu, PHL.
Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease caused by retrograde degeneration of the corticospinal tract and posterior columns, which presents with progressive bilateral leg weakness and spasticity. HSP is inherited in an autosomal dominant pattern involving over 80 causative genes. The recently identified causative gene is the ubiquitin-associated protein 1 ()gene, which is associated with juvenile-onset pure spastic paraplegia-80 (SPG80).
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