Genetic and Clinical Analysis of Cerebral Calcifications
Objective: Genetic and clinical analysis in primary cerebral calcification. Background: Cerebral calcification is associated with a variety of disorders of different aetiologies. To date, the primary…Ataxia and increased cerebrospinal fluid phosphate associated with a mutation in the SLC20A2 gene
Objective: To characterize the phenotype and biochemical abnormalities associated with the R467X mutation in the SLCA20A2 gene. Background: Mutations in the SLC20A2 gene are the…Efficient control of dopamine neuron physiology for rescuing disease phenotypes
Objective: Dopamine neurons (DAs) of the substantia nigra degenerate in Parkinson's disease and are disrupted in Huntington's disease. Here we propose single cell computational modeling…Familial idiopathic basal ganglia calcification with novel SLC20A2 gene variant
Objective: Describe a family with brain calcifications related to new pathogenic variant of SLC20A2 gene. Background: Three genes are associated with the rare occurrence of autosomal…Inhibition of the mitochondrial calcium uniporter (MCU) rescues dopaminergic neurons in pink1-/- zebrafish
Objective: To further elucidate the interaction between mitochondrial calcium homeostasis and PINK1 deficiency in a zebrafish (Danio rerio) model of Parkinson's disease (PD). Background: Loss…Gene expression analysis using the Parkinson’s disease map reveals early effects of alpha-synuclein on PD pathogenesis
Objective: The identification of early disease markers for Parkinson's disease (PD) is essential, since the disease is already in an advanced state when motor symptoms…Fahr’s syndrome in a Filipino female with hearing loss and polycystic ovaries: A case report
Objective: The objective of this case report is to document a case of Fahr's syndrome including its varied clinical manifestations. Background: Idiopathic basal ganglia calcification,…
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