Results 161 to 170 of about 656,141 (223)

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang   +16 more
wiley   +1 more source

Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez   +15 more
wiley   +1 more source

Heterozygous variants in AP4S1 are not associated with a neurological phenotype

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz   +9 more
wiley   +1 more source

CSF cytokine, chemokine and injury biomarker profile of glial fibrillary acidic protein (GFAP) autoimmunity

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Defining the CSF cytokine/chemokine and injury biomarker signature of glial fibrillary acidic protein (GFAP) autoimmunity can inform immunopathogenesis. CSF GFAP‐IgG‐positive samples (N = 98) were tested for 17 cytokines/chemokines, neurofilament light chain (NfL), and GFAP (ELLA, Bio‐Techne).
Yahel Segal   +11 more
wiley   +1 more source

Twelve‐month change in quantitative MRI calf muscle fat fraction in CMT1A predicts clinical change over 4 years

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
Abstract Objective We measured clinical and quantitative MRI outcome measures in CMT1A to assess long‐term responsiveness, establish longitudinal validity and assess MRI as a bridging biomarker. Methods Twenty patients with CMT1A and 20 matched controls underwent MRI, myometry and clinical assessments up to four times over mean 4‐year follow‐up ...
Matthew R. B. Evans   +8 more
wiley   +1 more source

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