(Ann Neurol[TA])
13,237 results
  • A Recurrent 3'UTR Variant in CAPN3 Highlights the Diagnostic Impact of Non-Coding Variants in Limb-Girdle Muscular Dystrophies. [Journal Article]
    Ann Neurol. 2026 Oct 21. [Online ahead of print]Estévez-Arias B, Segarra-Casas A, … Natera-de Benito DAN
  • CONCLUSIONS: Our results show that a recurrent non-coding CAPN3 variant causes disease by disrupting post-transcriptional regulation and demonstrate a generalizable principle, as 3'UTR variants can affect mRNA stability and protein expression across neuromuscular and other Mendelian diseases. Although often difficult to interpret as pathogenic, these variants can be therapeutically actionable, highlighting the importance of systematically investigating non-coding regions in unsolved genetic cases. ANN NEUROL 2026.
  • Cerebral No-Reflow after Thrombectomy: International Delphi Consensus on Definition and Imaging Assessment. [Journal Article]
    Ann Neurol. 2026 Oct 12. [Online ahead of print]Mujanovic A, Rivet S, … Cerebral No‐Reflow Delphi‐Consensus GroupAN
  • CONCLUSIONS: Based on currently available literature and expert opinions, this Delphi study provides a framework for systematically reporting cerebral no-reflow after endovascular treatment (EVT). The variability in opinions regarding quantitative thresholds highlights priorities for future methodological standardization and validation studies. ANN NEUROL 2026.
  • Astrocyte SMN Restoration and Forskolin Treatment Improve SMA Synaptic Pathology. [Journal Article]
    Ann Neurol. 2026 Oct 12. [Online ahead of print]Welby E, Liu X, … Ebert ADAN
  • CONCLUSIONS: We define actin-associated defects impacting astrocyte filopodia dynamics and motor neuron synaptic function in SMA. This shaped our therapeutic approach targeted to SMN-dependent and actin-related disease mechanisms, which overall demonstrated improvements in motor neuron function and disease pathology. ANN NEUROL 2026.
  • Centrum Semiovale Perivascular Spaces Predict First Hemorrhagic Lesion in Asymptomatic Amyloid-Positive Individuals. [Journal Article]
    Ann Neurol. 2026 Oct 09. [Online ahead of print]Alten B, Gokcal E, … Cucchiara BLAN
  • CONCLUSIONS: These findings identify severe EPVS-CSO as a strong predictor of first appearance of CAA-related hemorrhagic lesions in amyloid-positive individuals, supporting integration of amyloid biomarkers into magnetic resonance imaging-based Boston criteria. Identifying markers of the transition of CAA from a nonhemorrhagic to a hemorrhagic stage provides a potential foundation for approaching primary prevention of CAA-related hemorrhage. ANN NEUROL 2026.