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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.
Primary familial brain calcification (see Fahr's syndrome) is a rare disease involving bilateral calcifications in the brain, predominantly in basal ganglia but also cerebellum, thalamus, and brainstem in patients presenting with diverse neurologic (e.g. movement disorders, parkinsonism, seizures, headache) features and psychiatric (e.g ...
NAA60 was found to be important in brain phosphate homeostasis. It was identified as causative of the genetic disease primary familial brian calcification (PFBC). [9] PFBC is a neurodegenerative disease characterized by bilateral calcification distributed in the basal ganglia, thalamus, and cerebellum.
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19775 Ensembl ENSG00000143324 ENSMUSG00000026469 UniProt Q9UBH6 Q9Z0U0 RefSeq (mRNA) NM_004736 NM_001135669 NM_001328662 NM_011273 RefSeq (protein) NP_001129141 NP_001315591 NP_004727 NP_035403 Location (UCSC) Chr 1: 180.63 – 180.89 Mb Chr 1: 155.15 – 155.29 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Gene and physiological roles Xenotropic and polytropic retrovirus receptor ...
Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is a rare genetic disorder, which affects multiple organs. [ 1 ] [ 2 ] Its hallmarks are widespread progressive calcifications , cysts and abnormalities of the white matter of the brain, usually occurring together with abnormalities of the blood vessels of the retina .
Primary familial brain calcification; Familial Alzheimer-like prion disease; Febrile infection-related epilepsy syndrome; Felty's syndrome; Fetal hydantoin syndrome; Fetal trimethadione syndrome; FG syndrome; Fitz-Hugh–Curtis syndrome; Fitzsimmons–Guilbert syndrome; Fleischer's syndrome; Floating–Harbor syndrome; Fountain syndrome ...
Primary familial brain calcification; Familial Alzheimer-like prion disease; Febrile infection-related epilepsy syndrome; Flynn–Aird syndrome; Foix–Alajouanine syndrome; Foster Kennedy syndrome; Foville's syndrome; Fragile X syndrome; Fragile X-associated tremor/ataxia syndrome; Frey's syndrome; Fryns syndrome