Overlapping Diseases in a Brazilian Subject with Brain Calcification Linked to Novel Phenotypes

2020 ◽  
Vol 70 (8) ◽  
pp. 1255-1256
Author(s):  
Laura D. Ferreira ◽  
João Ricardo M. de Oliveira
Keyword(s):  
Brain Calcification ◽  
Brazilian Subject

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.

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.

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

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

scholarly journals Evaluation of chronic hypoparathyroidism course according to the Database of Endocrinology Research Centre

2020 ◽  
Vol 66 (5) ◽  
pp. 7-14
Author(s):  
E. V. Kovaleva ◽  
A. R. Ajnetdinova ◽  
A. K. Eremkina ◽  
N. G. Mokrysheva
Keyword(s):  
Conventional Therapy ◽  
Neuropsychiatric Symptoms ◽  
Visual Disturbance ◽  
Research Centre ◽  
Cross Sectional ◽  
Large Databases ◽  
Brain Calcification ◽  
Quality Of Medical Care ◽  
Chronic Hypoparathyroidism

BACKGRAUND: Currently high frequency of thyroid or parathyroid surgery is associated with significant increased incidence of hypoparathyroidism. Evaluation of the epidemiological and clinical features of chronic hypoparathyroidism is necessary to predict social-significant complications and to improve the quality of medical care.AIMS: To estimate clinical and demographic features, different regimens and efficacy of conventional therapy in patients with chronic postsurgical and nonsurgical hypoparathyroidism.MATERIALS AND METHODS: The cross-sectional, observational, continuous study was carried out based on Database of patients with chronic postsurgical and nonsurgical hypoparathyroidism of Endocrinology Research Centre, Moscow. 293 patients from 61 regions of the Russian Federation were included in this study. Statistical analysis was done on June 2020. The descriptive statistics are presented by medians (Ме) and the first and third quartiles (Q1; Q3) and by absolute and relative frequencies.RESULTS: Hypoparathyroidism was most often recorded in women (85%) at the age of 43 [32; 52] years, after thyroid surgery. Less than a half of the study group had target indicators of serum calcium and phosphate levels (31% and 47%, respectively) despite ongoing treatment. A complex instrumental examination for the disease complications was performed in 58% of cases (n = 169). Among them, kidney disorders were detected in 38%, visual disturbance in 14%, brain calcification in 10%, arrhythmias in 4% and neuropsychiatric symptoms in 6%. Conventional therapy with calcium supplements and activated vitamin D analogues was noted in 75% of patients.CONCLUSIONS: The analysis of large databases of patients with chronic hypoparathyroidism is a necessary tool for determining of optimal clinical and therapeutic approaches, as well as prognostic markers of disease complications.

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