Literature DB >> 11144166

[Asymptomatic familial basal ganglia calcification with autosomal dominant inheritance: a family report].

N Yamada1, T Hayashi.   

Abstract

We report here a pedigree of basal ganglia calcification with autosomal dominant inheritance. Following a traffic accident, the proband, a seven-year-old boy, was incidentally noted by cranial computed tomography to have calcification of the bilateral basal ganglia. Six affected members spanning three generations, aged from 5 to 57 years, also had calcification in various degree. None of them had clinical symptoms. There were neither abnormal data nor any characteristic physical symptoms associated with parathyroid disorders. There was no consanguinity. Both sexes were affected and the sex ratio was 0.5. Male-to-male transmission was documented. These findings suggested an autosomal dominant trait. The clinico-radiological findings in our pedigree were different from those of the previously reported cases of familial basal ganglia calcification, that infants were affected and that clinical symptoms were absent in elderly patients. These facts suggest our pedigree is a new type of familial basal ganglia calcification with autosomal dominant inheritance.

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Mesh:

Year:  2000        PMID: 11144166

Source DB:  PubMed          Journal:  No To Hattatsu        ISSN: 0029-0831


  6 in total

1.  Fahr's disease: variable presentations in a family.

Authors:  Fereshteh Ashtari; Farzad Fatehi
Journal:  Neurol Sci       Date:  2010-07-13       Impact factor: 3.307

2.  Bilateral Basal Ganglia Calcification: Fahr's Disease.

Authors:  Hsein Wei Ooi; Chaozer Er; Ikram Hussain; Navin Kuthiah; Veeraraghavan Meyyur Aravamudan
Journal:  Cureus       Date:  2019-06-01

3.  Fahr Disease: A Rare Cause of First-Time Seizure in the Emergency Department.

Authors:  Faleh M Aldawsari; Turki B Alotaibi; Omran S Hashim; Zainab A Bu Hamad; Maha R Eisaa; Abdulrahman A Alhumaidi; Salem M Alanazi; Fahad F Alenezi; Afnan A Batwie; Abdulaziz A Habib; Sukainah S Alismail; Omar S Almulhim; Abdullah F Al Amer; Thamer A Alghamdi; Faisal Al-Hawaj
Journal:  Cureus       Date:  2021-11-28

4.  Clinical and Outcome Analysis in Head Injury Patients with Fahr's Disease.

Authors:  Rahul Singh; Anurag Sahu; Ramit Chandra Singh; Kulwant Singh Bhaikhel; Ravi Shankar Prasad
Journal:  Asian J Neurosurg       Date:  2021-09-14

Review 5.  Fahr's syndrome: literature review of current evidence.

Authors:  Shafaq Saleem; Hafiz Muhammad Aslam; Maheen Anwar; Shahzad Anwar; Maria Saleem; Anum Saleem; Muhammad Asim Khan Rehmani
Journal:  Orphanet J Rare Dis       Date:  2013-10-08       Impact factor: 4.123

6.  Fahr's syndrome presenting with seizures in SARS-CoV-2 (COVID-19) pneumonia-a case report.

Authors:  Gürkan Demir; Onur Balaban; Muhammet Halit Tekeci; Zeynep Issı; Ali Fuat Erdem
Journal:  Neurol Sci       Date:  2020-09-23       Impact factor: 3.307

  6 in total

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