Fahr's disease

A hereditary condition with autosomal dominant inheritance that is characterized by symmetric calcinosis in the basal ganglia and other brain regions. Patients can either be asymptomatic or show a variety of neuropsychiatric symptoms that include PARKINSONISM; DYSTONIA; TREMOR; ATAXIA; DEMENTIA; PSYCHOSIS; SEIZURES and CHRONIC HEADACHE. Serum levels of CALCIUM; PHOSPHATE; ALKALINE PHOSPHATASE and PARATHYROID HORMONE are normal. Onset is typically between 30 and 50 years of age. A heterozygous mutation in the SLC20A2 gene has been identified. OMIM: 213600

Also Known As:

Adult-onset idiopathic nonarteriosclerotic cerebral calcification; BSPDC Bilateral striopallidodentate calcinosis; Basal Ganglia Calcification, Idiopathic, 1; Bilateral Striopallidodentate Calcinosis; Cerebral Calcification, Nonarteriosclerotic, Idiopathic, Adult-Onset; Cerebrovascular ferrocalcinosis; Fahr's syndrome; Familial idiopathic basal ganglia calcification; Ferrocalcinosis, Cerebrovascular; Fibgc; Idiopathic basal ganglia calcification 1; Striopallidodentate Calcinosis; Striopallidodentate Calcinosis, Autosomal Dominant, Adult-Onset; Striopallidodentate Calcinosis, Bilateral; Striopallidodentate calcinosis, autosomal dominant, adult onset

Networked: 86 relevant articles (1 outcomes, 4 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Neuromyelitis Optica (Devic's Disease)
2.	Transverse Myelitis (Necrotizing Myelitis)
3.	Fahr's disease
4.	Neurodegenerative Diseases (Neurodegenerative Disease)
5.	Calcinosis

Experts

1.	Hozumi, Isao: 4 articles (01/2019 - 05/2010)
2.	Hayashi, Yuichi: 3 articles (01/2018 - 05/2010)
3.	Inuzuka, Takashi: 3 articles (01/2018 - 05/2010)
4.	de Oliveira, João Ricardo Mendes: 2 articles (01/2020 - 11/2013)
5.	Kimura, Akio: 2 articles (01/2018 - 05/2010)
6.	Ozawa, Kazuhiro: 2 articles (01/2018 - 01/2013)
7.	Yamada, Megumi: 2 articles (01/2018 - 05/2010)
8.	Jensen, Nina: 2 articles (04/2016 - 11/2013)
9.	Pedersen, Lene: 2 articles (04/2016 - 11/2013)
10.	Oliveira, J R M: 2 articles (01/2016 - 06/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Fahr's disease:

1.	Phosphates (Orthophosphate)IBA 04/01/2022 - "Abnormal clearance of inorganic phosphate in the brain could be related to the development of vascular smooth muscle damage, the formation of cerebrovascular lesions, and subsequent brain calcification in patients with FIBGC with SLC20A2 variants." 02/12/2012 - "Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis." 01/01/1975 - "In the development of calcification of the cerebral blood vessels in Fahr's disease, the role of high serum phosphate levels, the increased permeability and dysfunction of mesenchymal cells of the vessel walls are discussed." 04/01/2016 - "Mutations in the SLC20A2-gene encoding the inorganic phosphate (Pi) transporter PiT2 can explain approximately 40% of the familial cases of the rare neurodegenerative disorder primary familial brain calcification (Fahr's disease). " 04/01/2022 - "The variant identified in the present patient could be associated with development of FIBGC and is known to be located at the large intracytoplasmic part of the PiT-2 protein, which has potential phosphorylation sites with importance in the regulation of inorganic phosphate transport activity. "
2.	ZincIBA 04/29/1977 - "Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study." 05/07/2010 - "High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease." 10/01/1996 - "We report a detailed analysis of the content of aluminum, iron, zinc, copper, calcium, and magnesium in the non-vascular and pericapillary mineralizations and the normal capillaries of the globus pallidus and dentate nucleus of the cerebellum in two patients with clinically and neuropathologically confirmed Fahr's disease. "
3.	MagnesiumIBA 04/29/1977 - "Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study." 05/07/2010 - "High Levels of Copper, Zinc, Iron and Magnesium, but not Calcium, in the Cerebrospinal Fluid of Patients with Fahr's Disease." 10/01/1996 - "We report a detailed analysis of the content of aluminum, iron, zinc, copper, calcium, and magnesium in the non-vascular and pericapillary mineralizations and the normal capillaries of the globus pallidus and dentate nucleus of the cerebellum in two patients with clinically and neuropathologically confirmed Fahr's disease. "
4.	AluminumIBA 01/01/1993 - "Attention was payed also to Aluminium participation in developing of encephalopathy in dialysed persons and in accumulation of metallic deposits in brain in the so-called Fahr's syndrome." 04/29/1977 - "Presence of zinc, aluminum, magnesium in striopalledodentate (SPD) calcifications (Fahr's disease): electron probe study." 10/01/1996 - "We report a detailed analysis of the content of aluminum, iron, zinc, copper, calcium, and magnesium in the non-vascular and pericapillary mineralizations and the normal capillaries of the globus pallidus and dentate nucleus of the cerebellum in two patients with clinically and neuropathologically confirmed Fahr's disease. "
5.	Trace Elements (Biometals)IBA 01/01/2013 - "Although Fahr's disease has been considered to be a heterogenous entity, the significant tendencies of several bioelements in the hair of patients in this study suggest metabolic disorders of bioelements, especially biometals, on the background. " 10/01/1996 - "The marked qualitative and quantitative differences in trace element content in non-vascular mineralizations between the globus pallidus and cerebellar dentate nucleus suggest that the involvement of trace elements in the pathogenesis of Fahr's disease is probably indirect." 10/01/1996 - "A laser microprobe mass analysis of trace elements in brain mineralizations and capillaries in Fahr's disease."
6.	OximesIBA 04/01/1995 - "We report a case of Fahr's disease in which a 99mTc-hexamethyl-propylenamine oxime (99mTc-HMPAO) brain SPECT study was used to evaluate regional cerebral blood flow to the calcified regions. " 06/01/2008 - "The clinical, CT scan, and 99(m)Tc-D,L-hexamethylpropylene amine oxime (99(m)Tc-HMPAO) brain perfusion single-photon emission computerized tomography (SPECT) findings in a 42-year-old woman with Fahr's disease are reported, and the clinical utility of 99(m)Tc-HMPAO SPECT findings in Fahr's disease is discussed in this article. "
7.	AntibodiesIBA 01/01/2023 - "The neuroimaging findings strongly suggested Fahr's syndrome, with radiographic evidence of Neuromyelitis optica spectrum disorder as longitudinal extensive transverse myelitis in the cervical spinal cord, high titers of serum aquaporin-4 antibodies, and demyelinating neuropathy on nerve conduction studies. "
8.	CalciumIBA 06/01/2021 - "Fahr's syndrome is a rare condition characterized by deposition of bilateral symmetric calcium deposits in the basal ganglia and cerebellar region, leading to neurological and psychiatric sequelae. " 10/02/2020 - "Fahr's syndrome is a rare neurological entity, primarily impacting basal ganglia with bilateral intracranial calcium deposition. " 07/01/2020 - "CT scan performed at admission showed calcium deposits on the dentate nuclei, basal ganglia, thalamus, cerebellum and bilateral subcortical fronto-parietal white matter compatible with Fahr's disease. " 11/01/2019 - "Fahr's syndrome: a case of unwanted calcium in the brain." 01/01/2019 - "Idiopathic basal ganglia calcification (IBGC), which is also called Fahr's disease or recently referred to as primary familial brain calcification (PFBC), is an idiopathic and intractable disease characterized by abnormal deposits of minerals including calcium in the basal ganglia and other brain regions such as the thalamus and cerebellum. "
9.	Vitamin D FDA LinkGeneric 01/01/2016 - "It also suggests that vitamin D might be used to regulate SLC20A2 gene expression, as well as reduce brain calcification which occurs in Fahr's disease and normal aging." 08/01/2018 - "Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients. Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. " 01/01/2023 - "Steroid could be considered as an adjunct therapy with calcium and vitamin D supplementation in patient whose Fahr's syndrome is secondary to primary hypoparathyroidism." 05/01/2022 - "HP- and PHP-related hypocalcemia requires calcium, calcitriol, and vitamin D therapy in a long run to avoid recurrent seizures whereas Fahr's disease is treated with an antiepileptic alone." 06/01/2021 - "She was diagnosed with Fahr's syndrome due to hypoparathyroidism, and she was managed with calcium gluconate, vitamin D, salt-free albumin, and levodopa-carbidopa, improving her condition. "
10.	Phosphorus (Red Phosphorus)IBA 01/01/2016 - "Fahr's syndrome is a neuropsychiatric syndrome characterized by symmetrical and bilateral intracerebral calcifications located in the basal ganglia and usually associated with a phosphorus and calcium metabolism disorder. " 04/01/2010 - "Fahr's syndrome is characterized by symmetrical and bilateral intracerebral calcifications, located in the basal ganglia and mostly associated with a phosphorus calcium metabolism disorder. " 05/01/2021 - "Neuroimaging scan and calcium/phosphorus metabolism evaluation should be considered in patients with new onset of neuropsychiatric symptoms, to provide an earliest detection of pathological and metabolic alterations, such as Fahr's syndrome." 11/18/1981 - "The authors report two computed tomographic observations of Fahr's disease without disturbances in calcium-phosphorus metabolism; the first case is a by chance discovery and the second one is characterized by a cerebellar tremor. "

Therapies and Procedures

1.	Therapeutics 01/01/2019 - "Our approach offers a resource and a platform for further research into the mechanism of Fahr's disease and could facilitate development and screening of pharmaceutical and gene therapies." 01/01/2023 - "Fahr's Syndrome Secondary to Primary Hypoparathyroidism Presenting With Seizures and the Role of Steroid Therapy." 01/01/2023 - "Here, we describe a patient who had Fahr's syndrome and basal secondary to hypoparathyroidism, and her calcium level raised after the administration of steroid therapy. " 02/01/2011 - "The diagnosis of Fahr's syndrome, revealing a pseudohypoparathyroidism was posed, and the patient was orientated to endocrinology after readjustment in his therapy (sodium valproate and olanzapine). " 01/01/2023 - "Steroid could be considered as an adjunct therapy with calcium and vitamin D supplementation in patient whose Fahr's syndrome is secondary to primary hypoparathyroidism."
2.	Radiotherapy 01/01/2010 - "Possible factor that caused hipoparathyroidism and also of Fahr's disease was radiotherapy performed to a wide area because of lung cancer. " 10/01/2011 - "Differential diagnosis considered were parasitic infections (hydatid, cysticercosis), Coat's plus disease and causes of diffuse cerebral calcification like Fahr's disease and post-radiotherapy/chemotherapy. " 08/01/2018 - "Etiologies included idiopathic hypoparathyroidism in 4 patients, pseudohypoparathyroidism in 5 cases, secondary hypoparathyroidism, isolated hypovitaminosis D and cerebral radiotherapy in one case for each and Fahr's disease in 4 patients. Oral calcium and vitamin D substitution were started in patients with parathyroid disturbances with favorable outcome. "
3.	Lasers (Laser) 07/01/1981 - "[Laser-spectroscopic analysis of pseudocalcium deposits in Fahr's syndrome]." 10/01/1996 - "A laser microprobe mass analysis of trace elements in brain mineralizations and capillaries in Fahr's disease." 07/01/1981 - "Laser spectrography was used for analysis of cations in vascular and tissue deposits in a case of Fahr's syndrome. " 06/05/1978 - "Laser-spectrographic analysis of the cation content in Fahr's syndrome." 06/05/1978 - "The cation content and composition of mineral deposits in cerebral vessels in a case of Fahr's syndrome was studied by laser-spectrographic analysis. "
4.	Thyroidectomy 01/01/2016 - "A typical case of Fahr's syndrome is described in a 76-year-old Brazilian female who underwent a total thyroidectomy three decades ago. " 01/01/2019 - "Secondary Fahr's Disease: A Consequence of Post-Thyroidectomy Hypoparathyroidism." 01/01/2019 - "The objective of this case report is to emphasize the importance of considering uncommon conditions like Fahr's disease in the differential diagnosis of seizures and cognitive impairment, especially in patients with a history of thyroidectomy. " 01/01/2019 - "The patient was diagnosed with Fahr's disease caused by post-thyroidectomy hypoparathyroidism and successfully managed with oral calcium, carbidopa/levodopa and haloperidol. "
5.	Deep Brain Stimulation 08/01/2013 - "Bilateral deep brain stimulation of the subthalamic nucleus effectively relieves dystonia secondary to Fahr's disease: a case report."