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…Design of a Phase 2 Study of Suvecaltamide in Moderate to Severe Parkinson’s Disease Tremor
Objective: Describe the design of a phase 2 study (NCT05642442) of a once-daily, extended-release formulation of suvecaltamide to treat moderate to severe Parkinson’s disease tremor…Bone Health in Parkinson’s Disease
Objective: Optimise bone health in people with Parkinson’s Disease Background: People with Parkinson’s Disease (PD) have an increased risk of osteoporosis and associated fractures due…Exome sequencing of 584 Chinese proband with brain calcification
Objective: The aim of this study is to evaluate the diagnostic value of whole exome sequencing in Chinese patients with brain calcification, and to provide exome sequencing-based insights into the genetic…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…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…Induction of Parkinsonian-like changes via targeted down-regulation of astrocytic glutamate transporter GLT-1 in the striatum
Objective: The aim was to explore the function and mechanism of astrocytic GLT-1 in PD-like changes. Background: Numerous researches suggest decreased expression of glutamate transporter-1…Vitamin D and Parkinson’s disease
Objective: to study the correlation between vitamin D levels (deficiency) and clinical presentations in patients with Parkinson’s disease Background: previous studies throughout the world have…
Abstracts from the International Congress of Parkinson’s and Movement Disorders.