Rare Prion Disease VPSPr Hides Among Other Proteinopathies, Two New Cases Reveal
Two new Austrian autopsy cases of variably protease-sensitive prionopathy reveal how codon 129 genetics and overlapping proteinopathies complicate diagnosis of ...
Tag: motor neuron disease
Fetal Gene Test Uncovers BICD2 Mutation Behind Congenital Knee Dislocation
A Chinese case report documents the prenatal ultrasound detection of congenital knee dislocation and traces it to a de novo ...
ALS’s ‘Lateral Sclerosis’ Revealed as a Dying-Back Degeneration of Upper Motor Neuron Axons
A clinical-neuropathological study shows that the lateral sclerosis of ALS reflects a length-dependent dying-back degeneration of upper motor neuron axons, ...
Telomere Gene NHP2 Linked to Nerve-Driven Muscle Wasting in Rare Family Study
A Norwegian family study reveals that muscle wasting in NHP2-related dyskeratosis congenita is driven by neurogenic degeneration, linking telomere biology ...
A Simple Nerve Test Could Predict When ALS Patients Will Need Breathing Support
A large pre-registered study shows that the effort-independent amplitude of the phrenic nerve compound muscle action potential predicts the timing ...
Early Weight Loss in ALS Signals Faster Decline, but Standard Energy Formulas Fall Short
A prospective Australian study shows that early weight loss in amyotrophic lateral sclerosis marks a subgroup with faster decline and ...
Poor Sleep May Signal Faster Decline in ALS, Large Chinese Cohort Study Finds
A retrospective cohort study of 268 ALS patients in China found that worse sleep quality on the Pittsburgh Sleep Quality ...
Long-Read Sequencing Steps Into the Clinic for Spinal Muscular Atrophy Diagnosis
A new clinical study shows that third-generation long-read sequencing matches conventional tests perfectly while revealing hidden carrier risks and gene ...
Rare Facial-Onset Nerve Disease Reveals Its Brain Footprint in Advanced MRI Study
Advanced MRI has revealed the first consistent brain signature of the ultra-rare neurological disorder FOSMN, showing brainstem atrophy and damage ...
Gene Therapy Now Leads Spinal Muscular Atrophy Treatment as Real-World Sequencing Patterns Emerge
A large US claims analysis shows that after widespread newborn screening, gene replacement therapy has become the dominant first treatment ...
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Mothers who receive childcare support from maternal grandparents show more parental warmth, finds NTU Singapore study
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University of Seville Breaks 120-Year-Old Mystery, Revises a Key Einstein Concept
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Bee body mass, pathogens and local climate influence heat tolerance
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Researchers record first-ever images and data of a shark experiencing a boat strike
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Groundbreaking Clinical Trial Reveals Lubiprostone Enhances Kidney Function
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