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Article

Analysis of the CTAGE5 P521A variation with the risk of familial idiopathic basal ganglia calcification in an Iranian population.

Journal of molecular neuroscience : MN - 1 Mar 2013

Saliminejad Kioomars, Ashtari Fereshteh, Kamali Koroosh, Edalatkhah Haleh, Khorram Khorshid Hamid Reza

Abstract excerpt

Familial idiopathic basal ganglia calcification (IBGC) is a rare neurodegenerative syndrome with an autosomal dominant pattern of inheritance which is characterized by deposition of calcium in the basal ganglia and other brain regions. Linkage studies demonstrated its genetic heterogeneity; however, the responsible genes are unknown. Recently, a heterozygous variation (C>G, P521A) at exon 20 of the human...

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Identifiers

PMID: 23054591
DOI: 10.1007/s12031-012-9898-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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