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Article

Evaluation of SLC20A2 mutations that cause idiopathic basal ganglia calcification in Japan.

Neurology - 25 Feb 2014

Yamada Megumi, Tanaka Masaki, Takagi Mari, Kobayashi Seiju, Taguchi Yoshiharu, Takashima Shutaro, Tanaka Kortaro, Touge Tetsuo, Hatsuta Hiroyuki, Murayama Shigeo, Hayashi Yuichi, Kaneko Masayuki, Ishiura Hiroyuki, Mitsui Jun, Atsuta Naoki, Sobue Gen, Shimozawa Nobuyuki, Inuzuka Takashi, Tsuji Shoji, Hozumi Isao

Abstract excerpt

OBJECTIVE: To investigate the clinical, genetic, and neuroradiologic presentations of idiopathic basal ganglia calcification (IBGC) in a nationwide study in Japan. METHODS: We documented clinical and neuroimaging data of a total of 69 subjects including 23 subjects from 10 families and 46 subjects in sporadic cases of IBGC in Japan. Mutational analysis of SLC20A2 was performed. RESULTS: Six new mutations in...

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Identifiers

PMID: 24463626
DOI: 10.1212/WNL.0000000000000143

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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