A practical approach to early-onset Parkinsonism

GM Riboldi, E Frattini, E Monfrini… - Journal of …, 2022 - content.iospress.com
Early-onset parkinsonism (EO parkinsonism), defined as subjects with disease onset before
the age of 40 or 50 years, can be the main clinical presentation of a variety of conditions that …

Role of phosphate in biomineralization

SK Bhadada, SD Rao - Calcified tissue international, 2021 - Springer
Inorganic phosphate is a vital constituent of cells and cell membranes, body fluids, and hard
tissues. It is a major intracellular divalent anion, participates in many genetic, energy and …

Local cues establish and maintain region-specific phenotypes of basal ganglia microglia

LM De Biase, KE Schuebel, ZH Fusfeld, K Jair… - Neuron, 2017 - cell.com
Microglia play critical roles in tissue homeostasis and can also modulate neuronal function
and synaptic connectivity. In contrast to astrocytes and oligodendrocytes, which arise from …

[HTML][HTML] Fahr syndrome–an important piece of a puzzle in the differential diagnosis of many diseases

K Jaworski, M Styczyńska, M Mandecka… - Polish journal of …, 2017 - ncbi.nlm.nih.gov
Fahr syndrome is a rare neurodegenerative disorder characterized by symmetrical, bilateral
calcifications in the basal ganglia, nucleus gyrus and cerebral cortex. The continuous …

Systematic analysis of exonic germline and postzygotic de novo mutations in bipolar disorder

M Nishioka, A Kazuno, T Nakamura, N Sakai… - Nature …, 2021 - nature.com
Bipolar disorder is a severe mental illness characterized by recurrent manic and depressive
episodes. To better understand its genetic architecture, we analyze ultra-rare de novo …

Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets

MEM Peters, EJM de Brouwer, JW Bartstra… - Neurology: Clinical …, 2020 - AAN Enterprises
Purpose of review There is growing interest in disorders involved in ectopic mineralization.
Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic …

[HTML][HTML] Neuropsychiatric manifestations of fahr's disease, diagnostic and therapeutic challenge: A case report and a literature review

MG Carbone, F Della Rocca - Clinical Neuropsychiatry, 2022 - ncbi.nlm.nih.gov
Objective Calcifications in basal ganglia could be an incidental finding up to 20% of
asymptomatic patients undergoing computed tomography (CT) or magnetic resonance …

The Association between Intracranial Calcifications and Symptoms in Patients with Primary Familial Brain Calcification

G Mathijssen, E van Valen, PA de Jong… - Journal of Clinical …, 2024 - mdpi.com
(1) Background: Primary Familial Brain Calcification (PFBC) is a neurodegenerative disease
characterized by bilateral calcifications of the basal ganglia and other intracranial areas …

[HTML][HTML] From variome to phenome: Pathogenesis, diagnosis and management of ectopic mineralization disorders

EYG De Vilder, OM Vanakker - World Journal of Clinical Cases …, 2015 - ncbi.nlm.nih.gov
Ectopic mineralization-inappropriate biomineralization in soft tissues-is a frequent finding in
physiological aging processes and several common disorders, which can be associated …

[HTML][HTML] A case of seizure revealing Fahr's syndrome with primary hypoparathyroidism

YJ Lee, S Park, YW Kim, KM Park, IH Kim… - The American journal …, 2018 - ncbi.nlm.nih.gov
Objective: Rare disease Background: Idiopathic basal ganglia calcification, also known as
Fahr's disease or Fahr's syndrome, is a rare neurological disorder characterized by …