primary familial brain calcification

BACKGROUND AND OBJECTIVES: In clinical practice, it can be difficult to differentiate between intracranial calcifications related to primary familial brain calcification (PFBC) or aging. Also, little is known about the consequences of the amount of intracranial calcifications in patients with PFBC. Therefore, we aimed to compare the amount and distribution of intracranial calcifications in persons with PFBC with controls and between asymptomatic and symptomatic PFBC cases. METHODS: This was a case-control study including patients with PFBC and controls...

A 49-year-old lady, hypertensive with dyslipidaemia, had thalamic bleed with intracranial multiple micro-haemorrhages. An extensive search was done and vasculitis was ruled out in the patient. Henceforth, she remained strict with medications and maintained blood pressure and lipids under control. After a lucid interval of 3 years, she attended emergency with complex partial seizure. We detected extensive microbleeds (significant increment) in magnetic resonance imaging of the brain and periventricular ischemic changes...

No abstract text is available yet for this article.

Primary familial brain calcification (PFBC) is an idiopathic pathology characterized by the development of calcific deposits in the supratentorial region such as telencephalon and diencephalon but also, in more extensive forms, in the cerebellum. Meningiomas are among the most common central nervous system (CNS) tumors generally related to a good prognosis. The simultaneous presence of intracerebral or extra-axial tumors and PFBC represents an exceedingly rare occurrence. A 72-year-old female patient was admitted to our department because of anoculogyric crisis followed by generalized seizures...

Primary familial brain calcification (PFBC), formerly known as Fahr's disease, is a rare neurodegenerative disease characterized by bilateral progressive calcification of the microvessels of the basal ganglia and other cerebral and cerebellar structures. PFBC is thought to be due to an altered function of the Neurovascular Unit (NVU), where abnormal calcium-phosphorus metabolism, functional and microanatomical alterations of pericytes and mitochondrial alterations cause a dysfunction of the blood-brain barrier (BBB) and the generation of an osteogenic environment with surrounding astrocyte activation and progressive neurodegeneration...

Primary familial brain calcification (PFBC) is a disorder in which pathologic calcification of the basal ganglia, cerebellum, or other brain regions with bilateral symmetry occurs. Common clinical symptoms include dysarthria, cerebellar symptoms, motor deficits, and cognitive impairment. Genetic factors are an important cause of the disease; however autosomal recessive (AR) inheritance is rare. In 2018, the myogenesis-regulated glycosidase ( MYORG ) gene was the first to be associated with AR-PFBC. The present case is a 24-year-old woman with AR-PFBC that presented with migraine at the age of 16 years...

Primary familial brain calcification (PFBC) is a rare neurodegenerative and neuropsychiatric disorder characterized by bilateral symmetric intracranial calcification along the microvessels or inside neuronal cells in the basal ganglia, thalamus, and cerebellum. Slc20a2 homozygous (HO) knockout mice are the most commonly used model to simulate the brain calcification phenotype observed in human patients. However, the cellular and molecular mechanisms related to brain calcification, particularly at the early stage much prior to the emergence of brain calcification, remain largely unknown...

BACKGROUND: Primary familial brain calcification (PFBC), habitually called Fahr's disease, is characterized by bilateral calcification of the basal ganglia, accompanied by extensive calcification of the cerebellar dentate nucleus, brainstem cerebrum, and cerebellum at the grey-white matter junction. However, there are few reports about PFBC with aneurysmal subarachnoid hemorrhage (aSAH) and thalassemia. CASE PRESENTATION: We describe a patient admitted to the hospital with an acute deterioration in the level of consciousness with no history of neuropsychiatric features or movement disorders...

Primary familial brain calcifications (PFBC) is characterized by bilateral and symmetrical deposition of inorganic phosphate, mainly in the basal ganglia, thalamus, cerebellum, and dentate nucleus. The symptoms resemble other neuropsychiatric conditions, such as Parkinsonism, dementia, migraine, and mood disorders. Pathogenic variants in six genes have been associated with this disorder, four linked to the autosomal dominant mode (SLC20A2, PDGFRB, PDGFB, and XPR1) and two linked to the recessive fashion (MYORG and JAM2)...

The Golgi apparatus is vital for protein modification and molecular trafficking. It is essential for nerve development and activity, and damage thereof is implicated in many neurological diseases. Primary familial brain calcification (PFBC) is a rare inherited neurodegenerative disease characterized by multiple brain calcifications. SLC20A2, which encodes the inorganic phosphate transporter 2 (PiT-2) protein, is the main pathogenic gene in PFBC. The PiT-2 protein is a sodium-dependent phosphate type III transporter, and dysfunction leads to a deficit in the cellular intake of inorganic phosphate (Pi) and calcium deposits...

Primary brain calcification (PBC), also known as idiopathic basal ganglia calcification (IBGC), primary familial brain calcification (PFBC) and so on, is a rare intractable disease characterized by abnormal mineral deposits, including mostly calcium in the basal ganglia, thalamus, and cerebellum. The causative gene of familial PBC is SLC20A2, which encodes the phosphate transporter PiT-2. Despite this knowledge, the molecular mechanism underlying SLC20A2-associated PBC remains unclear. In the present study, we investigated whether haploinsufficiency or a dominant-negative mechanism reduced Pi uptake in two PiT-2 variants (T115 M and R467X)...

Primary familial brain calcification (PFBC) is an inherited neurodegenerative disorder mainly characterized by progressive calcium deposition bilaterally in the brain, accompanied by various symptoms, such as dystonia, ataxia, parkinsonism, dementia, depression, headaches, and epilepsy. Currently, the etiology of PFBC is largely unknown, and no specific prevention or treatment is available. During the past 10 years, six causative genes (SLC20A2, PDGFRB, PDGFB, XPR1, MYORG, and JAM2) have been identified in PFBC...

BACKGROUND: Idiopathic basal ganglia calcification (IBGC) is a genetic disorder of the nervous system commonly known as Fahr disease. IBGC patients with a genetic background are considered to have primary familial brain calcification (PFBC), also known as familial basal ganglia calcification (FBGC), or familial Fahr disease. It is a rare degenerative neurological disorder characterized by extensive bilateral basal ganglia calcification that can lead to a range of extrapyramidal symptoms and neuropsychiatric manifestations...

INTRODUCTION: Primary brain calcification (PBC) is a rare and intractable neurodegenerative disease. SLC20A2 and PDGFB are two major causative genes. As there is no effective treatment to avoid further progression or to prevent the onset of the disease, the patients may experience psychological distress. There is a qualitative study on the experiences of patients with primary brain calcification with SLC20A2 variants. However, the experiences of patients with PDGFB variants of the disease have not been explored...

Primary familial brain calcification (PFBC) is characterised by abnormal deposits of calcium phosphate within various regions of the brain that are associated with severe cognitive impairments, psychiatric conditions, and movement disorders. Recent studies in diverse populations have shown a link between mutations in myogenesis-regulating glycosidase (MYORG) and the development of this disease. MYORG is a member of glycoside hydrolase (GH) family 31 (GH31) and, like the other mammalian GH31 enzyme α-glucosidase II, this enzyme is found in the lumen of the endoplasmic reticulum (ER)...

No abstract text is available yet for this article.

No abstract text is available yet for this article.

Primary familial brain calcification (PFBC) is a neurogenetic disorder characterized by bilateral calcified deposits in the brain. We previously identified that MYORG as the first pathogenic gene for autosomal recessive PFBC, and established a Myorg-KO mouse model. However, Myorg-KO mice developed brain calcifications until nine months of age, which limits their utility as a facile PFBC model system. Hence, whether there is another typical animal model for mimicking PFBC phenotypes in an early stage still remained unknown...

BACKGROUND: Primary familial brain calcification (PFBC) is a rare inherited neurological disorder characterized by bilateral basal ganglia calcification with a series of motor and nonmotor symptoms. Mutations in the SLC20A2 gene, encoding the PiT2 protein, are the major cause of the disease. Here, we report a Chinese PFBC family carrying a SLC20A2 gene mutation, and the proband presented with purely acute psychiatric symptoms, which has been rarely reported in this disease. CASE PRESENTATION: A 38-year-old woman was hospitalized due to disorganized speech; disordered thought contents; disorganized behaviour; emotional instability and lability; and grandiose words, actions and facial expressions...

Nevus flammeus is the most common benign congenital capillary malformation, often known as a port-wine stain. Sturge-Weber syndrome (SWS) is a congenital, sporadic, nonfamilial disease characterized by intracranial and ophthalmic vascular anomalies and nevus flammeus. It usually manifests as developmental delay, learning problems, paralysis, seizures, glaucoma and attention deficit, and hyperactivity disorder. A 29-year-old male patient presented with a reddish patch over the face since birth. He was found to have hemihypertrophy of face, hemiparesis of right limbs, and low intelligence quotient...