title: Extrapyramidal symptoms and advanced calcification of the basal ganglia in a patient with autosomal dominant hypocalcemia.
abstract: Most cases of hypoparathyroidism with decreased parathyroid hormone (PTH) secretion, excluding secondary hypoparathyroidism, are considered to be idiopathic. We herein report a relatively rare case of hypoparathyroidism with extrapyramidal symptoms, including brachybasia and a frozen gait, caused by advanced basal ganglia calcification in a 64-year-old man with hypoparathyroidism. A DNA (deoxyribonucleic acid) analysis of blood samples obtained from the patient and his eldest daughter revealed autosomal dominant hypocalcemia (ADH) with mutations in the calcium-sensing receptor (CaSR) gene. In cases of chronic hypoparathyroidism, calcification of the basal ganglia is observed if the patient is not treated for a long period. However, extrapyramidal symptoms as a complication of hypoparathyroidism are relatively rare.
authors.affiliation: The First Department of Internal Medicine, School of Medicine, University of Occupational and Environmental Health, Japan, Japan.
authors.forename: Akira
authors.initials: A
authors.lastname: Kurozumi
authors.forename: Yosuke
authors.initials: Y
authors.lastname: Okada
authors.forename: Tadashi
authors.initials: T
authors.lastname: Arao
authors.forename: Itsuro
authors.initials: I
authors.lastname: Endou
authors.forename: Toshio
authors.initials: T
authors.lastname: Matsumoto
authors.forename: Yoshiya
authors.initials: Y
authors.lastname: Tanaka
mesh_terms: D001480:Basal Ganglia Diseases / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D001483:Base Sequence; D002114:Calcinosis / Q000209:etiology / Q000473:pathology* / Q000503:physiopathology; D004252:DNA Mutational Analysis; D005260:Female; D005799:Genes, Dominant; D006579:Heterozygote; D006801:Humans; D053565:Hypercalciuria / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D006996:Hypocalcemia / Q000150:complications / Q000235:genetics* / Q000503:physiopathology*; D007011:Hypoparathyroidism / Q000150:complications / Q000151:congenital* / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D009154:Mutation; D044169:Receptors, Calcium-Sensing / Q000235:genetics; D014057:Tomography, X-Ray Computed
chemical_list: C095550:CASR protein, human; D044169:Receptors, Calcium-Sensing