Results 21 to 30 of about 1,166 (222)
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Cognitive decline is a disabling and variable feature of Parkinson disease (PD). While cholinergic system degeneration is linked to cognitive impairments in PD, most prior research reported cross‐sectional associations. We aimed to fill this gap by investigating whether baseline regional cerebral vesicular acetylcholine transporter ...
Taylor Brown +6 more
wiley +1 more source
Developmental and Epileptic Encephalopathy due to Biallelic Pathogenic Variants in PIGM
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective PIGM encodes a critical enzyme in the glycosylphosphatidylinositol (GPI)‐anchor biosynthesis pathway. While promoter‐region mutations in PIGM have been associated with a relatively mild phenotype characterized by portal vein thrombosis and absence seizures, recent evidence suggests that coding‐region mutations result in a more severe
Júlia Sala‐Coromina +11 more
wiley +1 more source
Multidimensional Profiling of MRI‐Negative Temporal Lobe Epilepsy Uncovers Distinct Phenotypes
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Although hippocampal sclerosis (TLE‐HS) represents the most frequent cause of temporal lobe epilepsy (TLE), up to 30% of patients show no lesion on visual MRI inspection (TLE‐MRIneg). These cases pose diagnostic and therapeutic challenges and are underrepresented in surgical series.
Alice Ballerini +28 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives Retrograde trans‐synaptic degeneration (rTSD) from posterior visual pathway lesions in multiple sclerosis (MS) is characterized by hemi‐macular ganglion cell‐inner plexiform layer (GCIPL) thinning and contralateral visual field loss.
Abdul Jaber Tayem +17 more
wiley +1 more source
Clinical Validation of Plasma p‐217tau in Neurological Diseases
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Plasma p‐217tau is a minimally invasive but specific biomarker for diagnosing Alzheimer's disease (AD). However, its disease specificity remains to be clinically evaluated. We validated the reliability of the p‐217tau biomarker in 12 other neurological diseases.
Takeshi Kawarabayashi +13 more
wiley +1 more source
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +1 more source
SPG4 and Dementia: Expanding the Clinical Spectrum
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Hereditary spastic paraplegia (HSP) is a group of disorders characterized by progressive spasticity and lower limb weakness, with mutations in SPG4/SPAST being the most common cause. Detailed studies and clinical and molecular comparisons across different populations are missing.
Emanuele Panza +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Isolated rapid eye movement sleep behavior disorder (iRBD) is a prodromal state for Lewy body disorders and exhibits biological heterogeneity that may influence clinical expression and progression. We examined clinical features in individuals with iRBD and biomarker‐defined synucleinopathy.
Daniel Weintraub +24 more
wiley +1 more source