Literature DB >> 3712392

Familial calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

L Mehta, J Q Trounce, J R Moore, I D Young.   

Abstract

Two related infants with microcephaly, spastic quadriplegia, and profound retardation are reported. Both showed extensive bilateral symmetrical calcification of the basal ganglia with cerebrospinal fluid pleocytosis.

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Mesh：

Year:  1986        PMID： 3712392      PMCID： PMC1049572          DOI： 10.1136/jmg.23.2.157

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


  13 in total

1.  Familial calcification of the cerebral basal ganglia and its relation to hypoparathyroidism.

Authors:  P D ROBERTS
Journal:  Brain       Date:  1959-12       Impact factor: 13.501

2.  Familial calcification of the basal ganglia with response to parathormone.

Authors:  W B MATTHEWS
Journal:  J Neurol Neurosurg Psychiatry       Date:  1957-08       Impact factor: 10.154

3.  Calcification of the corpus stiatum and dentate nuclei occurring in a family.

Authors:  J FOLEY
Journal:  J Neurol Neurosurg Psychiatry       Date:  1951-11       Impact factor: 10.154

4.  Familial idiopathic cerebral calcifications.

Authors:  F Boller; M Boller; J Gilbert
Journal:  J Neurol Neurosurg Psychiatry       Date:  1977-03       Impact factor: 10.154

5.  Familial calcification of the basal ganglions: a metabolic and genetic study.

Authors:  M A Moskowitz; R N Winickoff; E R Heinz
Journal:  N Engl J Med       Date:  1971-07-08       Impact factor: 91.245

6.  Familial steatorrhoea with calcification of the basal ganglia and mental retardation.

Authors:  R Cockel; E E Hill; D I Rushton; B Smith; C F Hawkins
Journal:  Q J Med       Date:  1973-10

7.  Microcephaly and intracranial calcification in two brothers.

Authors:  M Baraitser; E M Brett; A T Piesowicz
Journal:  J Med Genet       Date:  1983-06       Impact factor: 6.318

8.  A case of Morbus Fahr (nonarteriosclerotic, idiopathic intracerebral calcification of the blood vessels) in three generations. A clinico-anatomical contribution.

Authors:  G Pilleri
Journal:  Psychiatr Neurol (Basel)       Date:  1966

9.  Fahr's disease. An otolaryngologic perspective.

Authors:  S J Millen; J L Pulec; P M Kane
Journal:  Arch Otolaryngol       Date:  1982-09

10.  A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis.

Authors:  J Aicardi; F Goutières
Journal:  Ann Neurol       Date:  1984-01       Impact factor: 10.422
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  2 in total

1.  Aicardi-Goutières syndrome displays genetic heterogeneity with one locus (AGS1) on chromosome 3p21.

Authors:  Y J Crow; A P Jackson; E Roberts; E van Beusekom; P Barth; P Corry; C D Ferrie; B C Hamel; R Jayatunga; G Karbani; R Kálmánchey; A Kelemen; M King; R Kumar; J Livingstone; R Massey; R McWilliam; A Meager; C Rittey; J B Stephenson; J L Tolmie; A Verrips; T Voit; H van Bokhoven; H G Brunner; C G Woods
Journal:  Am J Hum Genet       Date:  2000-05-25       Impact factor: 11.025

Review 2.  The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis).

Authors:  J L Tolmie; P Shillito; R Hughes-Benzie; J B Stephenson
Journal:  J Med Genet       Date:  1995-11       Impact factor: 6.318
  2 in total

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