Familial idiopathic basal ganglia calcification with a heterozygous missense variant (c. 902C >T/p. P307L ) in SLC20A2 showing widespread cerebrovascular lesions

2022 ◽  
Author(s):  
Kenji Sakai ◽  
Chiho Ishida ◽  
Koji Hayashi ◽  
Naotaka Tsuji ◽  
Takayuki Kannon ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Missense Variant ◽  
Cerebrovascular Lesions ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification

Quetiapine responsive catatonia in an autistic patient with comorbid bipolar disorder and idiopathic basal ganglia calcification

2014 ◽  
Vol 36 (9) ◽  
pp. 823-825 ◽  
Author(s):  
Makoto Ishitobi ◽  
Masao Kawatani ◽  
Mizuki Asano ◽  
Hirotaka Kosaka ◽  
Takashi Goto ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Basal Ganglia ◽  
Basal Ganglia Calcification ◽  
Autistic Patient ◽  
Idiopathic Basal Ganglia Calcification

scholarly journals Longitudinal observation of ten family members with idiopathic basal ganglia calcification: A case report

2019 ◽  
Vol 7 (12) ◽  
pp. 1483-1491
Author(s):  
Seiju Kobayashi ◽  
Kumiko Utsumi ◽  
Masaru Tateno ◽  
Tomo Iwamoto ◽  
Tomonori Murayama ◽  
...  
Keyword(s):  
Case Report ◽  
Basal Ganglia ◽  
Family Members ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification ◽  
Longitudinal Observation

Inorganic phosphorus (Pi) in CSF is a biomarker for SLC20A2 -associated idiopathic basal ganglia calcification (IBGC1)

2018 ◽  
Vol 388 ◽  
pp. 150-154 ◽  
Author(s):  
Isao Hozumi ◽  
Hisaka Kurita ◽  
Kazuhiro Ozawa ◽  
Nobuyuki Furuta ◽  
Masatoshi Inden ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Inorganic Phosphorus ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification

scholarly journals Functional evaluation of PDGFB-variants in idiopathic basal ganglia calcification, using patient-derived iPS cells

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Shin-ichiro Sekine ◽  
Masayuki Kaneko ◽  
Masaki Tanaka ◽  
Yuhei Ninomiya ◽  
Hisaka Kurita ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Ips Cells ◽  
Functional Evaluation ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification

Neurological deficits are associated with increased brain calcinosis, hypoperfusion, and hypometabolism in idiopathic basal ganglia calcification

2007 ◽  
Vol 22 (7) ◽  
pp. 1027-1030 ◽  
Author(s):  
Misuzu Saiki ◽  
Shinji Saiki ◽  
Koichiro Sakai ◽  
Ichiro Matsunari ◽  
Kotaro Higashi ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Neurological Deficits ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification

Exclusion of linkage to chromosomes 14q, 2q37 and 8p21.1-q11.23 in a Serbian family with idiopathic basal ganglia calcification

2011 ◽  
Vol 258 (9) ◽  
pp. 1637-1642 ◽  
Author(s):  
Vladimir S. Kostić ◽  
Milica Lukić-Ječmenica ◽  
Ivana Novaković ◽  
Valerija Dobričić ◽  
Lela Brajković ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification
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