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Clinical Problem Solving: Two Patients With Gait Instability and Difficulty With Hand Coordination.
Neurohospitalist
January 2025
Instructor in Neurology, Harvard Medical School and Attending Physician, Stroke Division, Brigham & Women's Hospital, Boston, MA, USA.
Subacute-to-chronic gait instability has a broad differential diagnosis. The neurological exam can help elucidate the localization and suggest an underlying etiology of the symptomatology, which can lead to a more focused diagnostic approach. Two patients are described - 1 with a month of worsening difficulty with ambulation that evolved to bilateral hand discoordination and another with 18 months of progressive difficulty with ambulation that also then progressed to involve her bilateral hands.
View Article and Find Full Text PDFDisulfide-mediated oligomerization of mutant Cu/Zn-superoxide dismutase associated with canine degenerative myelopathy.
Protein Sci
December 2024
Department of Chemistry, Keio University, Yokohama, Japan.
A homozygous E40K mutation in the gene coding canine Cu/Zn-superoxide dismutase (cSOD1) causes degenerative myelopathy (DM) in dogs. A pathological hallmark of DM with the cSOD1 mutation is the aggregation of mutant cSOD1 proteins in neurons. The amino acid substitution E40K disrupts a salt bridge between Glu40 and Lys91 and is considered to destabilize the native state of cSOD1; however, the mechanism by which mutant cSOD1 aggregates remains unclear.
View Article and Find Full Text PDFAmyloid fibril structures and ferroptosis activation induced by ALS-causing SOD1 mutations.
Sci Adv
November 2024
Hubei Key Laboratory of Cell Homeostasis, College of Life Sciences, TaiKang Center for Life and Medical Sciences, Wuhan University, Wuhan 430072, China.
Article Synopsis
- Over 200 genetic mutations in the SOD1 gene are associated with ALS, with two specific mutations (H46R and G85R) showing reduced metal ion binding.
- Two cryo-electron microscopy structures of amyloid fibrils formed by these mutants reveal unique structural features, including a serpentine arrangement of β strands and specific interactions that stabilize the fibrils.
- The mutant fibrils are more toxic and enhance the aggregation of normal SOD1, leading to mitochondrial dysfunction and cell death through ferroptosis, providing new insights into the molecular mechanisms behind ALS.
Gelatinous transformation of bone marrow associated with ring sideroblasts: A diagnostic pitfall.
Ann Diagn Pathol
December 2024
Department of Anatomical and Clinical Pathology, University of Texas Medical Branch, Galveston, TX, USA; Department of Pathology & Laboratory Medicine, Cleveland Clinic Florida, Weston, FL, USA. Electronic address:
Article Synopsis
- Gelatinous bone marrow transformation (GBMT) is a rare medical condition involving the atrophy of fat cells and the buildup of a gelatinous substance in the bone marrow, leading to decreased blood cell production (hypoplastic hematopoiesis).
- A study reviewed bone marrow specimens from patients with a BMI of <18.5, revealing that 30% of those evaluated had GBMT associated with ring sideroblasts, a specific type of abnormal red blood cell.
- Notably, one patient’s ring sideroblasts were linked to copper deficiency, highlighting that GBMT may be misdiagnosed as myelodysplastic syndrome without further investigation.
Metal Ruthenium Complexes Treat Spinal Cord Injury By Alleviating Oxidative Stress Through Interaction With Antioxidant 1 Copper Chaperone Protein.
Adv Sci (Weinh)
December 2024
Department of Orthopedics, The First Affiliated Hospital, Jinan University, Guangzhou, Guangdong, 510632, China.
Article Synopsis
- - Oxidative stress significantly impacts spinal cord injury (SCI) recovery, and a new ruthenium metal complex offers potential treatment by targeting and scavenging harmful reactive oxygen species.
- - The study develops two novel ruthenium (II) complexes with specific ligands, which demonstrate enhanced protective abilities for neurons against oxidative stress, especially when using a particular arene substitution.
- - Research indicates that these ruthenium complexes not only protect neurons but also promote their regeneration, improving motor functions in mice with SCI, suggesting a promising new therapeutic avenue for SCI treatment.
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