Basal ganglia calcification in a patient with static encephalopathy of childhood with neurodegeneration in adulthood/β‐propeller protein‐associated neurodegeneration

2020 ◽  
Vol 8 (5) ◽  
pp. 332-334
Author(s):  
Fujio Umehara ◽  
Kazuhiro Iwama ◽  
Takeshi Mizuguchi ◽  
Naomichi Matsumoto
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Calcification ◽  
Static Encephalopathy

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 Genetic Screening and Functional Characterization ofPDGFRBMutations Associated with Basal Ganglia Calcification of Unknown Etiology

2014 ◽  
Vol 35 (8) ◽  
pp. 964-971 ◽  
Author(s):  
Monica Sanchez-Contreras ◽  
Matthew C. Baker ◽  
NiCole A. Finch ◽  
Alexandra Nicholson ◽  
Aleksandra Wojtas ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Genetic Screening ◽  
Functional Characterization ◽  
Unknown Etiology ◽  
Basal Ganglia Calcification

The genetic causes of basal ganglia calcification, dementia, and bone cysts: DAP12 and TREM2

Neurology ◽  
2006 ◽  
Vol 66 (4) ◽  
pp. 615-616 ◽  
Author(s):  
M. M. Bianchin ◽  
J. E. Lima ◽  
J. Natel ◽  
A. C. Sakamoto ◽  
H. Klunemann ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Bone Cysts ◽  
Basal Ganglia Calcification ◽  
Genetic Causes

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

scholarly journals A novel CASR mutation (p.Glu757Lys) causing autosomal dominant hypocalcaemia type 1

2018 ◽  
Vol 2018 ◽  
Author(s):  
Benjamin Kwan ◽  
Bernard Champion ◽  
Steven Boyages ◽  
Craig F Munns ◽  
Roderick Clifton-Bligh ◽  
...  
Keyword(s):  
Basal Ganglia ◽  
Autosomal Dominant ◽  
Family Members ◽  
Normal Serum ◽  
Mirror Image ◽  
List Type ◽  
Basal Ganglia Calcification ◽  
Proper Management ◽  
Serum Pth

Summary Autosomal dominant hypocalcaemia type 1 (ADH1) is a rare familial disorder characterised by low serum calcium and low or inappropriately normal serum PTH. It is caused by activating CASR mutations, which produces a left-shift in the set point for extracellular calcium. We describe an Australian family with a novel heterozygous missense mutation in CASR causing ADH1. Mild neuromuscular symptoms (paraesthesia, carpopedal spasm) were present in most affected individuals and required treatment with calcium and calcitriol. Basal ganglia calcification was present in three out of four affected family members. This case highlights the importance of correctly identifying genetic causes of hypocalcaemia to allow for proper management and screening of family members. Learning points: ADH1 is a rare cause of hypoparathyroidism due to activating CASR mutations and is the mirror image of familial hypocalciuric hypercalcaemia. In patients with ADH1, symptoms of hypocalcaemia may be mild or absent. Basal ganglia calcification may be present in over a third of patients. CASR mutation analysis is required for diagnostic confirmation and to facilitate proper management, screening and genetic counselling of affected family members. Treatment with calcium and activated vitamin D analogues should be reserved for symptomatic individuals due to the risk of exacerbating hypercalciuria and its associated complications.

scholarly journals Basal ganglia calcification in Down's syndrome.

1985 ◽  
Vol 48 (1) ◽  
pp. 61-64 ◽  
Author(s):  
S Takashima ◽  
L E Becker
Keyword(s):  
Basal Ganglia ◽  
Down's Syndrome ◽  
Down’S Syndrome ◽  
Basal Ganglia Calcification

Basal Ganglia Calcification in Psychiatric Inpatients

2016 ◽  
Vol 29 (3) ◽  
pp. 139-143 ◽  
Author(s):  
Amir A. Mufaddel ◽  
Ossama T. Osman ◽  
Ghanem Al-Hassani ◽  
Shakhbout Al-Bedwawi ◽  
M. Jawad Hashim
Keyword(s):  
Basal Ganglia ◽  
Psychiatric Inpatients ◽  
Basal Ganglia Calcification

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

Genetics of Familial Idiopathic Basal Ganglia Calcification (FIBGC)

2003 ◽  
pp. 443-450 ◽  
Author(s):  
Maria-Jesus Sobrido ◽  
Daniel H. Geschwind
Keyword(s):  
Basal Ganglia ◽  
Basal Ganglia Calcification ◽  
Idiopathic Basal Ganglia Calcification
Sign in / Sign up

Export Citation Format

Share Document