SLC20A2 Deficiency in Mice Leads to Elevated Phosphate Levels in Cerbrospinal Fluid and Glymphatic Pathway-Associated Arteriolar Calcification, and Recapitulates Human Idiopathic Basal Ganglia Calcification
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چکیده
منابع مشابه
Association between a Novel Mutation in SLC20A2 and Familial Idiopathic Basal Ganglia Calcification
Familial idiopathic basal ganglia calcification (FIBGC) is a rare, autosomal dominant disorder involving bilateral calcification of the basal ganglia. To identify gene mutations related to a Chinese FIBGC lineage, we evaluated available individuals in the family using CT scans. DNA was extracted from the peripheral blood of available family members, and both exonic and flanking intronic sequenc...
متن کاملmutation analysis of slc20a2 and spp2 as candidate genes for familial idiopathic basal ganglia calcification
background: familial idiopathic basal ganglia calcification (ibgc) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. ibgc is genetically heterogeneous and slc20a2, on chromosome 8p21.1–8q11.23, is the first gene found in ibgc-affected patients with varied ancestry. on the other hand, several candidate genes for ibgc on chromosome 2q37, including t...
متن کاملBasal ganglia calcification in idiopathic hypoparathyroidism
ABSTRACT: Hypoparathyroidism refers to a group of disorders in which extracellular calcium levels cannot be maintained within the normal range due to relative or absolute deficiency of parathyroid hormone. Clinically, hypoparathyroidism manifests predominantly as neuromuscular dysfunction caused by hypocalcemia. Basal ganglia calcification in particular is associated with hypoparathyroidism. Tw...
متن کاملMutation Analysis of SLC20A2 and SPP2 as Candidate Genes for Familial Idiopathic Basal Ganglia Calcification
BACKGROUND Familial Idiopathic Basal Ganglia Calcification (IBGC) is a rare neurodegenerative disorder which is usually transmitted as an autosomal dominant trait. IBGC is genetically heterogeneous and SLC20A2, on chromosome 8p21.1-8q11.23, is the first gene found in IBGC-affected patients with varied ancestry. On the other hand, several candidate genes for IBGC on chromosome 2q37, including th...
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ژورنال
عنوان ژورنال: Brain Pathology
سال: 2016
ISSN: 1015-6305
DOI: 10.1111/bpa.12362