Global Information Lookup Global Information

Primary familial brain calcification information


Primary familial brain calcification
Other namesFamilial idiopathic basal ganglia calcification
CT scan of characteristic calcifications of the disease
SpecialtyNeurology Edit this on Wikidata

Primary familial brain calcification[1] (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease,[1] is a rare,[2] genetically dominant or recessive, inherited neurological disorder characterized by abnormal deposits of calcium in areas of the brain that control movement. Through the use of CT scans, calcifications are seen primarily in the basal ganglia and in other areas such as the cerebral cortex.[3]

  1. ^ a b Eliana Marisa Ramos; Joao Oliveira; Maria J Sobrido; Giovanni Coppola (1993). "Primary Familial Brain Calcification". GeneReviews, at National Center for Biotechnology Information. University of Washington, Seattle. PMID 20301594. Initial Posting: April 18, 2004; Last Update: August 24, 2017.
  2. ^ "Genetic and Rare Diseases Information Center (GARD) – an NCATS Program | Providing information about rare or genetic diseases". Archived from the original on 2009-05-11. Retrieved 2009-06-13.
  3. ^ Benke T; Karner E; Seppi K; Delazer M; Marksteiner J; Donnemiller E (August 2004). "Subacute dementia and imaging correlates in a case of Fahr's disease". J. Neurol. Neurosurg. Psychiatry. 75 (8): 1163–5. doi:10.1136/jnnp.2003.019547. PMC 1739167. PMID 15258221.

and 24 Related for: Primary familial brain calcification information

Request time (Page generated in 0.8684 seconds.)

Primary familial brain calcification

Last Update:

Primary familial brain calcification (PFBC), also known as familial idiopathic basal ganglia calcification (FIBGC) and Fahr's disease, is a rare, genetically...

Word Count : 2148

Calcification

Last Update:

of the pineal gland. Extraskeletal calcification, e.g. calciphylaxis Brain, e.g. primary familial brain calcification (Fahr's syndrome) Choroid plexus usually...

Word Count : 884

PDGFRB

Last Update:

imatinib therapy. Primary familial brain calcification (see Fahr's syndrome) is a rare disease involving bilateral calcifications in the brain, predominantly...

Word Count : 3403

Dystonia

Last Update:

DB, et al. (March 2014). "SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia". Neurogenetics. 15 (1): 23–30. doi:10.1007/s10048-013-0378-5...

Word Count : 3522

Stroke

Last Update:

as a cerebrovascular accident (CVA) or brain attack) is a medical condition in which poor blood flow to the brain causes cell death. There are two main...

Word Count : 20417

Amyloidosis

Last Update:

duodenum with amyloid deposition Congo red 10X Amyloidosis, dystrophic calcification Small bowel duodenum with amyloid deposition 20X Amyloidosis, Node,...

Word Count : 5432

Meningioma

Last Update:

tumor that forms from the meninges, the membranous layers surrounding the brain and spinal cord. Symptoms depend on the location and occur as a result of...

Word Count : 4201

Atherosclerosis

Last Update:

smooth muscle proliferation by releasing nitric oxide.[citation needed] Calcification forms among vascular smooth muscle cells of the surrounding muscular...

Word Count : 11043

Hyperparathyroidism

Last Update:

endocrine neoplasia syndromes, hyperparathyroidism-jaw tumor syndrome, familial hypocalciuric hypercalcemia, neonatal severe hyperparathyroidism also increase...

Word Count : 5244

Amyloid

Last Update:

these diseases are mainly sporadic and only a few cases are familial. Others are only familial. Some result from medical treatment. Prions are an infectious...

Word Count : 6514

SMIM19

Last Update:

Myllykangas L, Guerreiro R, Bras J, Valori M, et al. (July 2017). "Primary familial brain calcification linked to deletion of 5' noncoding region of SLC20A2". Acta...

Word Count : 2273

Cerebrospinal fluid leak

Last Update:

surrounds the brain and spinal cord leaks out of one or more holes or tears in the dura mater. A CSF leak is classed as either spontaneous (primary), having...

Word Count : 7123

List of skin conditions

Last Update:

(mucopolysaccharidosis type VII) Subepidermal calcified nodule (solitary congenital nodular calcification, Winer's nodular calcinosis) Transient erythroporphyria...

Word Count : 17977

Lipoma

Last Update:

factors for liposarcoma include large size (>5 cm), associated with calcification, rapid growth, and/or invasion into nearby structures or through fascia...

Word Count : 3030

Nasal polyp

Last Update:

Hounsfield units, which is similar to that of mucus. Nasal polyps may have calcification. On histologic examination, nasal polyps consist of hyperplastic edematous...

Word Count : 2174

Jaundice

Last Update:

discoloration of teeth due to bilirubin deposition during the process of tooth calcification. While this may occur in children with hyperbilirubinemia, tooth discoloration...

Word Count : 5113

Chromosome 21

Last Update:

lateral sclerosis Atrial fibrillation, familial Autoimmune polyendocrine syndrome type 1 Basal ganglia calcification Bartsocas–Papas syndrome Bethlem myopathy...

Word Count : 2969

Parathyroid hormone

Last Update:

"Advanced oxidation protein products, parathyroid hormone and vascular calcification in uremia". Blood Purification. 20 (5): 494–7. doi:10.1159/000065203...

Word Count : 4158

Cardiovascular disease

Last Update:

support their routine use. They include family history, coronary artery calcification score, high sensitivity C-reactive protein (hs-CRP), ankle–brachial...

Word Count : 14421

Vestibular schwannoma

Last Update:

(sporadic and NF2) are very rare, accounting for only about 8% of all primary brain tumors. The incidence of NF2 is approximately 1 per 60,000 people. Patient...

Word Count : 6764

Cotransporter

Last Update:

congenital chloroidorrhea ALDR Adrenoleukodystrophy ANK ankylosis (calcification); arthritis accompanied by mineral deposition, formation of bony outgrowths...

Word Count : 2288

List of OMIM disorder codes

Last Update:

TMEM43 Arrhythmogenic right ventricular dysplasia, familial, 9; 609040; PKP2 Arterial calcification, generalized, of infancy; 208000; ENPP1 Arterial tortuosity...

Word Count : 18877

Eye disease

Last Update:

of central vision,. (H47.3) Optic disc drusen — globules progressively calcify in the optic disc, compressing the vascularization and optic nerve fibers...

Word Count : 1662

Eating disorder

Last Update:

tumors in various regions of the brain have been implicated in the development of abnormal eating patterns. Brain calcification: a study highlights a case in...

Word Count : 25932

PDF Search Engine © AllGlobal.net