Abstract
Nine members of a family spanning three generations showed bilateral calcifications of the basal ganglia with autosomal dominant inheritance. Two members developed chorea, dementia, and a characteristic speech disturbance (palialalia) in the third or fourth decade. A third member possibly shows the initial stage of a similar syndrome. Six members with calcifications but without neurological signs are younger than 25 years. All nine patients had normal calcium and phosphorus, and no evidence of endocrinological or somatic abnormalities. Thie 'isiopathic' picture must be differentiated from hypoparathyroidism and pseudohypoparathyroidism.
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- BENNETT J. C., MAFFLY R. H., STEINBACH H. L. The significance of bilateral basal ganglia calcification. Radiology. 1959 Mar;72(3):368–378. doi: 10.1148/72.3.368. [DOI] [PubMed] [Google Scholar]
- BRUYN G. W., BOTS G. T., STAAL A. FAMILIAL BILATERAL VASCULAR CALCIFICATION IN THE CENTRAL NERVOUS SYSTEM. Psychiatr Neurol Neurochir. 1964 Jul-Aug;67:342–376. [PubMed] [Google Scholar]
- Babbitt D. P., Tang T., Dobbs J., Berk R. Idiopathic familial cerebrovascular ferrocalcinosis (Fahr's disease) and review of differential diagnosis of intracranial calcification in children. Am J Roentgenol Radium Ther Nucl Med. 1969 Feb;105(2):352–358. doi: 10.2214/ajr.105.2.352. [DOI] [PubMed] [Google Scholar]
- Boller F., Boller M., Denes G., Timberlake W. H., Zieper I., Albert M. Familial palilalia. Neurology. 1973 Oct;23(10):1117–1125. doi: 10.1212/wnl.23.10.1117. [DOI] [PubMed] [Google Scholar]
- FOLEY J. Calcification of the corpus stiatum and dentate nuclei occurring in a family. J Neurol Neurosurg Psychiatry. 1951 Nov;14(4):253–261. doi: 10.1136/jnnp.14.4.253. [DOI] [PMC free article] [PubMed] [Google Scholar]
- HOLT J. F., DICKERSON W. W. The osseous lesions of tuberous sclerosis. Radiology. 1952 Jan;58(1):1–8. doi: 10.1148/58.1.1. [DOI] [PubMed] [Google Scholar]
- MATTHEWS W. B. Familial calcification of the basal ganglia with response to parathormone. J Neurol Neurosurg Psychiatry. 1957 Aug;20(3):172–177. doi: 10.1136/jnnp.20.3.172. [DOI] [PMC free article] [PubMed] [Google Scholar]
- Moskowitz M. A., Winickoff R. N., Heinz E. R. Familial calcification of the basal ganglions: a metabolic and genetic study. N Engl J Med. 1971 Jul 8;285(2):72–77. doi: 10.1056/NEJM197107082850202. [DOI] [PubMed] [Google Scholar]
- PALUBINSKAS A. J., DAVIES H. Calcification of the basal ganglia of the brain. Am J Roentgenol Radium Ther Nucl Med. 1959 Nov;82:806–822. [PubMed] [Google Scholar]
- SALA E., SAVOLDI F. Contributo alla conoscenza delle forme ereditarie della malattia di Fahr. Sist Nerv. 1959 Jan-Feb;11(1):46–73. [PubMed] [Google Scholar]
- SCHAFROTH H. J. Familiäre symmetrische Gehirnverkalkung. Schweiz Med Wochenschr. 1958 Dec 13;88(50):1269–1273. [PubMed] [Google Scholar]
- Smeyers-Verbeke J., Michotte Y., Pelsmaeckers J., Lowenthal A., Massart D. L., Dekegel D., Karcher D. The chemical composition of idiopathic nonarteriosclerotic cerebral calcifications. Neurology. 1975 Jan;25(1):48–57. doi: 10.1212/wnl.25.1.48. [DOI] [PubMed] [Google Scholar]