Basal Ganglia Calcification. Aetiopathogenesis, Diagnostics, Clinical Manifestations

Fahr disease is a rare hereditary or sporadic neurological condition characterized by bilateral calcium deposition in the basal ganglia, dentate nuclei of cerebellum, and subcortical white matter. We can also distinguish Farh syndrome when its etiology is associated with the disorder of calcium metabolism, mitochondriopathies, cerebrum neoplasms, infections, inflammatory diseases of the nervous system, and injuries. The most common manifestations in patients with calcification of the basal ganglia of cerebrum are neurological and/or psychiatric disorders of varying severity. The clinical manifestation of the disease can occur at different ages, but mainly in young and middle-aged adults. However, some patients remain asymptomatic throughout their lives. The main clinical manifestations of the disease are extrapyramidal and movement disorders, emotional and cognitive impairments. At the same time, the correspondence of the form and severity of neurological conditions and the nature of calcification of the basal ganglia is rare. Currently, the treatment strategy for Fahr disease is based on symptomatic therapy and correction of etiological factors in Fahr syndrome. There is information about the reversibility of the calcification process and the complete restoration of mental functions in the early diagnosis and treatment of Fahr syndrome.

Pediatric Idiopathic Basal Ganglia Calcification and Spherocytosis With Chromosome 8p11 Deletion

Idiopathic basal ganglia calcification (IBGC), also known as Fahr disease, is a rare neurodegenerative disorder characterized by the accumulation of extensive parenchymal and vascular calcifications in the basal ganglia, with variable calcifications elsewhere in the brain. Typically, IBGC presents with neurologic and psychiatric symptoms in middle-aged adults. Recent genetic studies have identified alterations in 4 genes causing IBGC, including alterations in SLC20A2 on chromosome 8p11.2. Currently, there are no clinical descriptions of patients with IBGC occurring within the context of a complex genetic syndrome. Here, we present a case of pediatric 8p11 deletion with IBGC, hereditary spherocytosis, vitreoretinopathy, and focal cortical dysplasia. We review multiple cases of IBGC with pediatric onset due to SLC20A2 deletion in the literature, and raise the consideration of IBGC in the evaluation of pediatric patients with 8p11.2 deletion syndromes.

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

Purpose of reviewThere is growing interest in disorders involved in ectopic mineralization. Fahr disease or idiopathic basal ganglia calcification can serve as a model for ectopic mineralization in the basal ganglia, which is fairly common in the general population. In this review, we will focus on causative gene mutations and corresponding pathophysiologic pathways in Fahr disease.Recent findingsPatients with Fahr disease have a variability of symptoms, such as movement disorders, psychiatric signs, and cognitive impairment, but can also be asymptomatic. Fahr disease is mostly autosomal dominant inherited, and there are mutations found in 4 causative genes. Mutations in SLC20A2 and XPR1 lead to a disrupted phosphate metabolism involving brain-specific inorganic phosphate transporters. Mutations in PDGFB and PDGFRB are associated with disrupted blood-brain barrier integrity and dysfunctional pericyte maintenance. In addition, the MYORG gene has recently been discovered to be involved in the autosomal recessive inheritance of Fahr.SummaryKnowledge about the mutations and corresponding pathways may expose therapeutic opportunities for patients with Fahr disease and vascular calcifications in the brain in general.

Fahr's Syndrom e: A rare case- Presented as Acute Ischaemic Stroke

Fahr's syndrome refers to a rare syndrome characterized by symmetrical and bilateral intracranial calcification. We present a 65-year-old female with Fahr disease, presenting with headache with acute ischaemic stroke with left sided hemiplegia. CT scan of brain reveals irregular variable size hyperdense areas are noted in both basal ganglia regions and in both cerebellar hemisphere.Medicine Today 2017 Vol.29(1): 45-46

FAHR'S Sy ndrome: A rare Neurodegenerative Disorder

Idiopathic Basal Ganglia Calcification, also known as Fahr disease or Fahr's Syndrome or Bilateral StriatoPallidoDentate Calcinosis (BSPDC) is a rare, genetically dominant, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement, including the basal ganglia and the cerebral cortex. A rare idiopathic disease which manifests in middle age characterized by punctate areas of non-arteriosclerotic calcination in parts of the gray and dentate nuclei, particularly of smaller brain vessels. The symptoms include mental and growth retardation, dystonic movements, and athetosis. May be caused by a malfunction of the glandula parathyreoidea. The term Fahr triad consists of symmetrical calcification of the basal ganglia, neuropsychiatric symptoms, and hypofunction of the parathyroid gland. Treatment is directed toward minimizing symptoms. The prognosis for any individual with Fahr's Syndrome is variable and hard to predict. Progressive neurological deterioration generally results in disability and death.Medicine Today 2017 Vol.29(1): 39-41