Literature DB >> 7315196

Familial basal ganglia calcifications visualized by computerized tomography.

J Okada, K Takeuchi, M Ohkado, K Hoshina.   

Abstract

Intracranial calcification can now be detected easily and precisely with the advent of computerized tomography. A familial case of striopallidal calcification with a rare hereditary pattern of autosomal dominancy is presented. None of the family members, aged from 8 to 62, displayed any neurological abnormality. All female family members had, bilaterally, short fourth metatarsals. Serum calcium and phosphorus values were not abnormal, although such physical findings are compatible with pseudohypoparathyroidism. The family tree suggested autosomal dominant heredity with a penetrance rate of 100%. Our survey revealed that no more than 10 cases of familial striopallidal calcification excluding ours have been reported to date. Only by utilizing CT was the hereditary pattern of our case determined accurately.

Entities:  

Mesh:

Year:  1981        PMID: 7315196     DOI: 10.1111/j.1600-0404.1981.tb04406.x

Source DB:  PubMed          Journal:  Acta Neurol Scand        ISSN: 0001-6314            Impact factor:   3.209


  1 in total

1.  Identification of a locus on chromosome 14q for idiopathic basal ganglia calcification (Fahr disease).

Authors:  D H Geschwind; M Loginov; J M Stern
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.