Literature DB >> 6840142

Progressive idiopathic strio-pallido-dentate calcinosis (Fahr's disease) with autosomal recessive inheritance. Report of three siblings.

M G Smits, F J Gabreëls, H O Thijssen, R L 't Lam, S L Notermans, B G ter Haar, J J Prick.   

Abstract

3 siblings with symmetrical calcifications in the strio-pallido-dentate system are described. Parathyroid function was normal and there were no signs of central or peripheral myelinopathy. This is the 9th family reported with autosomal recessive idiopathic strio-pallido-dentate calcinosis and the first to be investigated by computerized tomography (CT). CT scans appeared to be superior to plain skull radiograms to assess the localization and the extent of the calcifications in vivo. The calcifications were the least extensive in the youngest and the most extensive in the eldest. It is suggested that the calcifying process is a progressive disorder. It seems to start in the dentate nuclei and pons, and subsequently extends to the basal ganglia and to the radiation of the corpus callosum.

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Year:  1983        PMID: 6840142     DOI: 10.1159/000115537

Source DB:  PubMed          Journal:  Eur Neurol        ISSN: 0014-3022            Impact factor:   1.710


  6 in total

Review 1.  MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.

Authors:  Max Bauer; Dolev Rahat; Elad Zisman; Yuval Tabach; Alexander Lossos; Vardiella Meiner; David Arkadir
Journal:  Curr Neurol Neurosci Rep       Date:  2019-08-23       Impact factor: 5.081

2.  Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

Authors:  L Mehta; J Q Trounce; J R Moore; I D Young
Journal:  J Med Genet       Date:  1986-04       Impact factor: 6.318

Review 3.  Neuropathology in movement disorders.

Authors:  W R Gibb
Journal:  J Neurol Neurosurg Psychiatry       Date:  1989-06       Impact factor: 10.154

4.  Autosomal dominant idiopathic hypoparathyroidism and nervous system dysfunction: report of three cases and review of the literature.

Authors:  M Smits; F Gabreëls; P Froeling; H Thijssen; E Colon; B ter Haar; C Ruland; R Lam
Journal:  J Neurol       Date:  1982       Impact factor: 4.849

5.  Idiopathic nonarteriosclerotic cerebral calcification (Fahr's disease): an electron microscopic study.

Authors:  S Kobayashi; I Yamadori; H Miki; M Ohmori
Journal:  Acta Neuropathol       Date:  1987       Impact factor: 17.088

6.  Neuropsychiatric manifestations of Fahr's disease pathogenesis and potential for treatment.

Authors:  Raheel Mushtaq; Sheikh Shoib; M S V K Raju; Nilesh Naphade; Tabindah Shah; Alka Pawar
Journal:  Ind Psychiatry J       Date:  2013-07
  6 in total

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