Calcium phenotype in cellular models of VPS13A disease
Objective: Since the Membrane contact sites (MCS) between ER and mitochondria are of particular importance for cellular calcium homeostasis, we hypothesize that MCS dysfunction in…PFBC and dystonia: description of a cohort and peculiar cases
Objective: To describe dystonia in a PFBC cohort Background: Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by calcium deposition in basal…Tongue fasciculations and numbness: A case of calcifying pseudoneoplasm
Objective: To describe a 61-year-old female who presents with abnormal tongue movement found to have right frontoparietal calcifying pseudoneoplasm of the neuraxis (CAPNON). Background: CAPNON…Representation of movement repertoire in subthalamic neural circuits using a markerless 3D behavioral tracking system.
Objective: This study aimed to investigate the spatiotemporal encoding of neurons in the subthalamic nucleus using a mouse model. Background: The subthalamic nucleus is a…Quantitative investigation of the pathway between dopamine receptors and Ca2+ channels in layer II stellate cells towards Parkinson’s disease
Objective: Recent experimental data suggest a putative coupling between dopamine D2 receptors (D2R) and T-type Ca2+ channels as another biophysical explanation for the firing pattern…Impaired CaMKII/ERK activation in mouse mutant LRRK2 R1441G fibroblasts was associated with reduced mitochondrial calcium store and efflux in response to depolarization stress
Objective: To determine the molecular link of LRRK2R1441G mutation to impaired CaMKII/ERK signaling under mitochondrial depolarization stress using mutant mouse embryonic fibroblast (MEF) model of…Autosomal recessive Primary Familial Brain Calcification caused by MYORG mutations. Two unrelated cases from the south of Chile
Objective: To describe two unrelated cases of AR- PFBC with mutations in MYORG gene. Background: Primary Familial Brain Calcification (PFBC) is a rare neurogenetic disorder…In Silico Study Reveals Cocaine Exposure Modulates Dopamine Neuron Firing Patterns by Inhibiting Small Conductance Calcium Activated Potassium Current
Objective: The neurological reason behind the loss of dopamine neurons causing Parkinson’s disease (PD) is an unsolved mystery. Background: As PD is identified as a…Symptomatic brain calcifications in two patients with JAM2 monoallelic variants.
Objective: To describe two subjects carrying monoallelic JAM2 genetic variant associated with brain calcification. Background: Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder…Cognitive profiling in a cohort of Primary Familial Brain Calcification (PFBC) patients
Objective: To investigate neuropsychological and behavioural profile of PFBC patients. Background: PFBC is a rare genetic neurodegenerative disorder characterized by abnormal calcium phosphate deposition basal…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.