scholarly journals Throat‐Clearing Vocalizations in Primary Brain Calcification Syndromes

2021 ◽  
Author(s):  
Eoin Mulroy ◽  
Andreea Ilinca ◽  
Cristina Gonzalez‐Robles ◽  
Francesca Magrinelli ◽  
Andreas Puschmann ◽  
...  
Keyword(s):  
Throat Clearing ◽  
Brain Calcification

scholarly journals Zika virus NS3 protease induces bone morphogenetic protein-dependent brain calcification in human fetuses

2021 ◽  
Author(s):  
Weiqiang Chen ◽  
Suan-Sin Foo ◽  
Eunjin Hong ◽  
Christine Wu ◽  
Wai-Suet Lee ◽  
...  
Keyword(s):  
Bone Morphogenetic Protein ◽  
Zika Virus ◽  
Human Fetuses ◽  
Morphogenetic Protein ◽  
Brain Calcification ◽  
Ns3 Protease

Fahr’s disease with an initial presentation of crescendo TIA

2021 ◽  
Vol 14 (6) ◽  
pp. e242837
Author(s):  
Paul Smith ◽  
Kalun Ng ◽  
Kailash Krishnan
Keyword(s):  
White Matter ◽  
Psychiatric Symptoms ◽  
Symptomatic Relief ◽  
Management Strategies ◽  
Initial Presentation ◽  
Fahr’S Disease ◽  
Fahr's Disease ◽  
Personality Changes ◽  
Brain Calcification ◽  
Ischaemic Attack

A 51-year-old man presented with vertigo, slurred speech and left facial droop. He had been previously diagnosed with transient ischaemic attack (TIA) and had a prior lacunar infarct. Imaging showed heavy symmetrical calcification in the globus pallidus, frontal white matter and cerebellar dentate nuclei/deep white matter. The imaging was pathognomonic for Fahr’s disease and diagnosis was confirmed when other secondary causes of hypercalcemia were excluded. Fahr’s disease is a rare, autosomal dominant, neurological condition characterised by primary brain calcification. Patients present with progressive neurological and psychiatric symptoms; commonly, Parkinsonian movement disorders, seizures, headaches, dysarthria, cognitive decline, psychosis and personality changes. There is an association with intracerebral ischaemic events. This case supports a growing body of anecdotal evidence of this association and is the first in which crescendo TIA may be the initial presentation of Fahr’s disease. Referral for genetic counselling and symptomatic relief for neurological symptoms are the main management strategies.

JAM2: A New Culprit at the Pathophysiology of Primary Familial Brain Calcification

2021 ◽  
Author(s):  
Waydja L. V. A. Marinho ◽  
João Ricardo M. de Oliveira
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

scholarly journals Microglia control small vessel calcification via TREM2

2021 ◽  
Vol 7 (9) ◽  
pp. eabc4898
Author(s):  
Yvette Zarb ◽  
Sucheta Sridhar ◽  
Sina Nassiri ◽  
Sebastian Guido Utz ◽  
Johanna Schaffenrath ◽  
...  
Keyword(s):  
Central Nervous System ◽  
Nervous System ◽  
Mouse Model ◽  
Vascular Calcification ◽  
Neurovascular Unit ◽  
Small Vessel ◽  
Vascular Pathology ◽  
Cns Development ◽  
Brain Calcification

Microglia participate in central nervous system (CNS) development and homeostasis and are often implicated in modulating disease processes. However, less is known about the role of microglia in the biology of the neurovascular unit (NVU). In particular, data are scant on whether microglia are involved in CNS vascular pathology. In this study, we use a mouse model of primary familial brain calcification, Pdgfbret/ret, to investigate the role of microglia in calcification of the NVU. We report that microglia enclosing vessel calcifications, coined calcification-associated microglia, display a distinct activation phenotype. Pharmacological ablation of microglia with the CSF1R inhibitor PLX5622 leads to aggravated vessel calcification. Mechanistically, we show that microglia require functional TREM2 for controlling vascular calcification. Our results demonstrate that microglial activity in the setting of pathological vascular calcification is beneficial. In addition, we identify a previously unrecognized function of microglia in halting the expansion of vascular calcification.

scholarly journals Expanding the genetic spectrum of primary familial brain calcification due to SLC2OA2 mutations: a case series

Neurogenetics ◽  
2021 ◽  
Author(s):  
Luca Magistrelli ◽  
Roberta Croce ◽  
Fabiola De Marchi ◽  
Chiara Basagni ◽  
Miryam Carecchio ◽  
...  
Keyword(s):  
Autosomal Dominant ◽  
Case Series ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Phenotypic Spectrum ◽  
Primary Familial Brain Calcification ◽  
Psychiatric Disturbances ◽  
Brain Calcification ◽  
Uncertain Significance ◽  
Six Genes

AbstractPrimary familial brain calcification (PFBC) is a neurological condition characterized by the presence of intracranial calcifications, mainly involving basal ganglia, thalamus, and dentate nuclei. So far, six genes have been linked to this condition: SLC20A2, PDGFRB, PDGFB, and XPR1 inherited as autosomal-dominant trait, while MYORG and JAM2 present a recessive pattern of inheritance. Patients mainly present with movement disorders, psychiatric disturbances, and cognitive decline or are completely asymptomatic and calcifications may represent an occasional finding. Here we present three variants in SLC20A2, two exonic and one intronic, which we found in patients with PFBC associated to three different clinical phenotypes. One variant is novel and two were already described as variants of uncertain significance. We confirm the pathogenicity of these three variants and suggest a broadening of the phenotypic spectrum associated with mutations in SLC20A2.

Prevalencia de mucosa gástrica heterotópica cervical y su relación con síntomas de reflujo gastroesofágico. Estudio observacional

2021 ◽  
Vol 51 (2) ◽  
Author(s):  
Natalia Marina Zeytuntsian ◽  
José Tawil ◽  
Ana Adet Caldelari ◽  
Álvaro Falzone ◽  
Patricio Sheridan ◽  
...  
Keyword(s):  
Gastric Mucosa ◽  
Clinical Manifestations ◽  
Heterotopic Gastric Mucosa ◽  
Extraesophageal Reflux ◽  
Cross Sectional ◽  
Reflux Symptoms ◽  
Throat Clearing ◽  
Extraesophageal Symptoms ◽  
The Mean ◽  
Upper Gastrointestinal

Introduction. The heterotopic gastric mucosal patch or inlet patch is the presence of gastric columnar mucosa outside the stomach, most frequently located in the proximal esophagus. Its manifestations vary from esophageal and extraesophageal reflux symptoms to major complications, most of them being asymptomatic. Aim. To determine the prevalence of cervical heterotopic gastric mucosa in our environment and its association with esophageal and extraesophageal reflux symptoms. Material and methods. Prospective cross-sectional and observational study; consecutive patients who came to our institution between December 2018 and October 2019 for diagnostic upper gastrointestinal videoendoscopy were included, following a questionnaire on clinical manifestations. Results. A total of 1,408 patients were included. In 89 (6.3%), a cervical heterotopic gastric mucosal patch was described. The mean age of the patients without this condition was 54.6 and 55.5 in patients with it. The esophageal symptoms of gastroesophageal reflux (heartburn, regurgitation, and chest pain) in patients with cervical heterotopic gastric mucosa was observed in 40 (44.9% / p = 0.473), 12 (13.5% / p = 0.783) and 4 (4.5% / p = 0.199) patients respectively. The presence of extraesophageal symptoms (globus, chronic cough, dysphonia, and throat clearing) in patients with cervical heterotopic gastric mucosa was: 9 (10.1% / p = 0.011); 7 (7.9% / p = 0.155); 4 (4.5% / p = 0.458) and 9 (10.1% / p = 0.036) respectively. Conclusions. A statistically significant association was found between the presence of cervical heterotopic gastric mucosal patch and symptoms of globus (p = 0.011) and throat clearing (p = 0.036). It could be interpreted that this group of patients would benefit from the research and treatment of this condition with the intention of improving their symptoms.

scholarly journals Idiopathic brain calcification in a patient with hereditary hemochromatosis

BMC Neurology ◽  
2020 ◽  
Vol 20 (1) ◽  
Author(s):  
Stefania Scarlini ◽  
Francesco Cavallieri ◽  
Massimo Fiorini ◽  
Elisa Menozzi ◽  
Francesca Ferrara ◽  
...  
Keyword(s):  
Hereditary Hemochromatosis ◽  
Brain Calcification

Analysis of gene expression and functional characterization of XPR1: a pathogenic gene for primary familial brain calcification

2017 ◽  
Vol 370 (2) ◽  
pp. 267-273 ◽  
Author(s):  
Xiang-Ping Yao ◽  
Miao Zhao ◽  
Chong Wang ◽  
Xin-Xin Guo ◽  
Hui-Zhen Su ◽  
...  
Keyword(s):  
Gene Expression ◽  
Functional Characterization ◽  
Primary Familial Brain Calcification ◽  
Brain Calcification ◽  
Pathogenic Gene

scholarly journals MYORG is associated with recessive primary familial brain calcification

2018 ◽  
Vol 6 (1) ◽  
pp. 106-113 ◽  
Author(s):  
David Arkadir ◽  
Alexander Lossos ◽  
Dolev Rahat ◽  
Muneer Abu Snineh ◽  
Ora Schueler-Furman ◽  
...  
Keyword(s):  
Primary Familial Brain Calcification ◽  
Brain Calcification

Rapid Brain Calcification after Ischemic Stroke

1993 ◽  
Vol 119 (6) ◽  
pp. 490 ◽  
Author(s):  
Robert J. Wityk
Keyword(s):  
Ischemic Stroke ◽  
Brain Calcification
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