A Case of Autosomal Dominant Hypocalcemia Presenting with Parkinsonism and Widespread Brain Calcifications
Objective: To describe a case of CASR mutation-related hypocalcemia presenting with progressive movement disorder, cognitive decline, and widespread brain calcifications, illustrating the overlap between metabolic and neurodegenerative disorders.…Automatic Quantification of Basal Ganglia Calcification Burden in Chinese Population
Objective: To develop an automated algorithm for precise quantification of basal ganglia calcification burden based on CT scans in Chinese population. Background: Basal ganglia calcification…White matter involvement and cortical thickness in PFBC (Primary Familial Brain Calcifications)
Objective: describing MRI findings in PFBC Background: PFBC is a rare genetic neurodegenerative disorder characterized by bilateral calcium deposition in basal ganglia, featuring movement disorders,…A young Peruvian woman with a stairs conundrum: Scapuloperoneal spinal muscular atrophy (SPSMA) due to a TRPV4 mutation case report
Objective: To make the first case report of SPSMA associated with TRPV4 gene mutation in the Peruvian population presented in a young Peruvian woman. Background:…Phenotypic Variability Across Four Generations in a Family with CACNA1A Mutation
Objective: Our objective is to describe phenotypic variability across four generations in a family with a specific CACNA1A mutation. Background: CACNA1A is a gene located…Dance by Mammary: A Case of Paraneoplastic Chorea associated with Ductal Carcinoma in Situ
Objective: . Background: Paraneoplastic syndromes encompass a range of neurologic disorders triggered by an immune response to neoplasms, mediated by antibodies or cellular mechanisms. Paraneoplastic…Effect of Antihypertensive Agent Choice on Parkinson’s Disease Progression in Patients with Hypertension
Objective: To determine the effect of different classes of antihypertensive medications on Parkinson’s disease progression. Background: Cardiovascular risk factors such as hypertension can worsen Parkinson’s…Alterations of Plasma Membrane in Parkinson’s disease LRRK2 I1371V iPSC derived Astrocytes contribute to the vulnerability of the niche cells to Extracellular α-Synuclein
Objective: This study investigates the impact of LRRK2 I1371V mutation on astrocyte plasma membrane dynamics & its association with extracellular α-synuclein using astrocytes derived from…A Homozygous Variant in NAA60 is Associated with Primary Familial Brain Calcification
Objective: To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC).To identify novel genes in autosomal recessive Primary Familial Brain Calcifications (PFBC). Background:…Cardiovascular Risk Profile in Patients with Primary Familial Brain Calcification
Objective: To explore the cardiovascular risk profile of patients with Primary Familial Brain Calcification (PFBC) and Fahr’s syndrome. Background: PFBC, also known as Fahr’s disease,…
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