4-Hydroxybenzoic Acid Restores Endogenous Coenzyme Q10 in COQ2-Deficient Patient
A first-in-human trial shows 4-HBA bypasses biosynthetic blocks to improve neurological and renal outcomes in primary CoQ10 deficiency.
Anterior Temporal Atrophy Precedes Semantic Dementia Symptoms by Five Years
Large-scale MRI analysis identifies a prolonged prodromal phase and quantifies the prevalence of incidental anterior temporal lobe loss.
Adenoviral Protein Reactivity Linked to Guillain-Barré Syndrome After COVID-19
Patients with post-infection or post-vaccination GBS show heightened antibody responses to adenoviruses, suggesting a shared trigger.
Biallelic EIPR1 Variants Cause Neurodevelopmental Syndrome and Neutropenia
Defects in endosomal recycling and dense core vesicle biogenesis drive a spectrum of microcephaly, ataxia, and spasticity.
African Ancestry Parkinson’s Disease Linked to Distinct GBA1 and LRRK2 Variants
Genetic screening of 710 African ancestry cases reveals that common European risk variants are absent, replaced by population-specific mutations.
Selective HDAC6 Inhibition Improves Motor Function in Preclinical ALS Models
A CNS-penetrant small molecule restores protein clearance and axonal transport, reducing neurofilament levels and TDP-43 pathology.
SSPOP Mutations Linked to Pediatric Epilepsy and Developmental Disorders
Researchers identify pathogenic variants in a supposed pseudogene, expanding the diagnostic landscape for unexplained neurodevelopmental delay.
Skin Biopsy Distinguishes Body-First from Brain-First Parkinson’s Disease
Cutaneous alpha-synuclein signatures and seeding activity identify divergent pathological origins and autonomic denervation patterns.
Hippocampal Lesions Reduce Visual Working Memory Precision in Epilepsy Patients
Postoperative hippocampal damage selectively degrades memory quality rather than quantity, offering a marker for functional monitoring.
Intracranial Recordings Map Immediate and Distal Neural Responses to Magnetic Stimulation
A review of human and primate data shows single-pulse TMS excites neurons in 2 milliseconds and modulates networks for up to 40 minutes.
Memory Deficits Persist in Multiple Sclerosis Despite Preserved Processing Speed
Modern treatment eras show a shift where cognitive slowing is no longer the primary deficit in relapsing-remitting multiple sclerosis.
FGF14 Repeat Expansions Identified in Patients with Parkinson's Disease
Long-read sequencing reveals that a genetic variant linked to ataxia also occurs in patients meeting clinical criteria for Parkinson's.