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Familial calcification of the basal ganglia: a case report and review of the literature

Published online by Cambridge University Press:  09 July 2009

J. Flint  and
L. H. Goldstein
J. Flint*
Affiliation:
Neuropsychiatry Unit, Maudsley Hospital, London
L. H. Goldstein
Affiliation:
Neuropsychiatry Unit, Maudsley Hospital, London
*
1 Address for correspondence: Dr J. Flint, Maudsley Hospital, Denmark Hill, London SE5 8AZ.
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Synopsis

Although calcification of the basal ganglia is a relatively common and asymptomatic finding on cranial computed tomography, familial idiopathic calcification of the basal ganglia (ICBG) is a rare disorder with neurological and behavioural manifestations. Attention has recently been drawn to the frequency with which cases are diagnosed as schizophrenic (Cummings et al. 1983; Lowenthal, 1986; Davison, 1987). We report a family in which a mother and son have ICBG, but while the son has a paranoid schizophrenia and intellectual deterioration, the mother shows no psychiatric illness. A review of the relevant literature suggests that psychosis is not as common as usually supposed, and may only be coincidentally associated with familial ICBG. Moreover, we find little convincing evidence that familial ICBG is an independent entity; instead, and in agreement with earlier authorities (Bruyn et al. 1964), we argue that published accounts and our own cases provide evidence that the condition is related to pseudo-hypoparathyroidism (PHP) and, therefore, may be due to a defect in a guanine nucleotide binding protein.

Type
Original Articles
Information
Psychological Medicine , Volume 22 , Issue 3 , August 1992 , pp. 581 - 595
Copyright
Copyright © Cambridge University Press 1992

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References

REFERENCES

Benton, A. L. (1974). Revised Visual Retention Test (4th edn). Psychological Corporation: New York.Google Scholar
Beyme, R. (1946). Über das Gehirn einer familiär Oligophrenen mit symmetrischen Kalkablagerungen, besonders in den Stammganglien. Schweizerische Archiv für Neurologie und Psychiatrie 56, 169–190, and 57, 16–64.Google Scholar
Boller, F., Boller, M. & Gilbert, J. (1977). Familial idiopathic cerebral calcifications. Journal of Neurology, Neurosurgery and Psychiatry 40, 280–285.Google Scholar
Bourne, H. R., Sanders, D. A. & McCormick, F. (1990). The GTPase superfamily: a conserved switch for diverse cellular functions. Nature 348, 125–132.CrossRefGoogle Scholar
Brannan, T. S., Burger, A. A. & Chaudhary, M. Y. (1980). Bilateral basal ganglia calcifications visualised on CT scan. Journal of Neurology, Neurosurgery and Psychiatry 43, 403–406.Google Scholar
Bruyn, G. W., Bots, G. T. A. M. & Staal, A. (1964). Familial bilateral vascular calcification in the central nervous system. Psychiatria, Neurologia, Neurochirurgia 67, 342–376.Google Scholar
Carter, A., Bardin, C., Collins, R., Simons, C., Bray, P. & Spiegel, A. (1987). Reduced expression of multiple forms of Gs-alpha in pseudohypoparathyroidism type la. Proceedings of the National Academy of Sciences USA 84, 7266–7269.Google Scholar
Casanova, M. F., Prasad, C. M., Waldman, I., Karp, B. I., Stein, B., Weinberger, D. R. & Kleinman, J. B. (1990). No difference in basal ganglia mineralization between schizophrenic and non-schizophrenic patients: a quantitative computerized tomographic study. Biological Psychiatry 27, 138–142.Google Scholar
Cummings, J. L., Gosenfeld, L. F., Holihan, J. P. & McCaffrey, T. (1983). Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia. Biological Psychiatry 18, 591–601.Google Scholar
Davison, K. (1987). Organic and toxic concomitants of schizophrenia: association or chance? In Biological Perspectives of Schizophrenia (ed. Helmchen, H. and Henn, F. A.), pp. 139–160. Wiley: New York.Google Scholar
Ellie, E., Julien, J. & Ferrer, X. (1989). Familial idiopathic striopallidodenate calcifications. Neurology 39, 381–385.Google Scholar
Evans, B. K. & Donley, D. K. (1988). Pseudohypoparathyroidism, parkinsonism syndrome with no basal ganglia calcification. Journal of Neurology, Neurosurgery and Psychiatry 51, 709–713.Google Scholar
Fahr, T. (1930). Idiopathische Verkalkung der Hirngefässe. Zentralblatt Allgemeine Pathologie 50, 129–133.Google Scholar
Farfel, Z. & Friedman, E. (1986) Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency. Annals of Internal Medicine 105, 197–199.Google Scholar
Fitch, N. (1982). Albright's hereditary osteodystrophy: a review. American Journal of Medical Genetics 11, 11–29.CrossRefGoogle ScholarPubMed
Foley, J. (1951). Calcification of the corpus striatum and dentate nuclei occurring in a family. Journal of Neurology, Neurosurgery and Psychiatry 14, 253–261.Google Scholar
Förstl, H., Krumm, B., Eden, S. & Kohlmeyer, K. (1991). What is the psychiatric significance of basal ganglia mineralization? Biological Psychiatry 29, 827–833.Google Scholar
Francis, A. & Freeman, H. (1984). Psychiatric abnormality and brain calcification over four generations. Journal of Nervous and Mental Disease 172, 166–170.CrossRefGoogle ScholarPubMed
Fritzsche, R. (1935). Eine familiär auftretende Form von Oligophrenie mit röntgenologisch nachweisbaren symmetrischen Kalkablagerungen im Gehirn, besonders in Stammganglien. Schweizerische Archiv für Neurologie und Psychiatrie 35, 1–29.Google Scholar
Goeminne, L. (1965). Albright's hereditary poly-osteochondrodystrophy. Acta Geneticae, Medicae et Gemellologiae 14, 226–281.Google Scholar
Hall, P. (1972). Calcification of the basal ganglia apparently presenting as a schizophreniform psychosis. Postgraduate Medical Journal 48, 636–639.CrossRefGoogle ScholarPubMed
Harati, Y., Jackson, J. A. & Benjamin, E. (1964). Adult onset idiopathic familial brain calcifications. Archives of Internal Medicine 144, 2425–2427.Google Scholar
Harrington, M. G., Macpherson, P., McIntosh, W. B., Allam, B. F. & Bone, I. (1981). The significance of the incidental finding of basal ganglia calcification on computed tomography. Journal of Neurology, Neurosurgery and Psychiatry 44, 1168–1170.Google Scholar
Hier, D. B. & Cummings, J. L. (1990). Rare acquired and degenerative subcortical dementias. In Subcortical Dementia (ed. Cummings, J. L.), pp. 198–217. OUP: Oxford.Google Scholar
Kalamboukis, Z. & Moiling, P. (1962). Symmetrical calcification of the brain in the predominance in the basal ganglia and cerebellum. Journal of Neuropathology and Experimental Neurology 21, 364–371.Google Scholar
Kasanin, J. & Crank, R. P. (1935). A case of extensive calcification in the brain. Selective calcification of the finer cerebral blood vessels. AMA Archives of Neurology and Psychiatry 34, 164–178.Google Scholar
Kendrick, D. (1985). Cognitive Tests for the Elderly. NFER-Nelson: Windsor.Google Scholar
Kløve, H. (1963). Clinical neuropsychology. In The Medical Clinics of North America (ed. Forster, F. M.), pp. 41–52. Saunders: New York.Google Scholar
Koller, W. C., Cochran, J. W. & Klawans, H. L. (1979). Calcification of the basal ganglia: computerized tomography and clinical correlation. Neurology 29, 328–333.Google Scholar
König, P. (1989). Psychopathological alterations in cases of symmetrical basal ganglia sclerosis. Biological Psychiatry 25, 459–468.Google Scholar
KönigP. & Haller, R. P. & Haller, R. (1985). Ergebnisse der Untersuchung einer Sippe mit gehäuftem Auftreten von bilateral symmetrischer Stammganglienverkalkung. European Archives of Psychiatry and Neurological Sciences 234, 325–334.Google Scholar
Larsen, T. A., Dunn, H. G., Jan, J. E. & Calne, D. B. (1985). Dystonia and calcification of the basal ganglia. Neurology 35, 533–537.Google Scholar
Lowenthal, A. (1986). Striopallidodentate calcifications. In Handbook of Clinical Neurology (ed. Vinken, P. J., Bruyn, G. W. and Klawans, H. L.), vol. 5, pp. 417–426. Elsevier Science Publishers: Amsterdam.Google Scholar
Lowenthal, A. & Bruyn, G. W. (1968). Calcification of the striopallidodentate system. In Handbook of Clinical Neurology (ed. Bruyn, G. W. and Vinken, P.), vol. 6, pp. 703–725. North-Holland: Amsterdam.Google Scholar
Mann, J. B., Alterman, S. & Hills, A. G. (1962). Albright's hereditary osteodystrophy comprising pseudohypoparathyroidism and pseudo-pseudohypoparathyroidism with a report of two cases representing the complete syndrome occurring in successive generations. Annals of Internal Medicine 56, 315–342.Google Scholar
Matthews, W. B. (1957). Familial calcification of the basal ganglia with response to parathormone. Journal of Neurology, Neurosurgery and Psychiatry 20, 172–177.Google Scholar
Moskowitz, M. A., Winickoff, R. N. & Heinz, E. R. (1971). Familial calcification of the basal ganglions. New England Journal of Medicine 285, 72–77.Google Scholar
Murphy, M. J. (1979). Clinical correlations of CT scan-detected calcifications of the basal ganglia. Annals of Neurology 6, 507–511.Google Scholar
Neer, E. J. & Clapham, D. E. (1988). Roles of G-protein subunits in transmembrane signalling. Nature 333, 129–134.Google Scholar
Nelson, H. (1976). A modified card sorting test sensitive to frontal lobe defects. Cortex 12, 313–324.Google Scholar
Nelson, H. (1982). National Adult Reading Test. NFER-Nelson: Windsor.Google Scholar
Nichols, F. L., Holdsworth, D. E. & Reinfrank, R. F. (1961). Familial hypocalcaemia, latent tetany and calcification of the basal ganglia. American Journal of Medicine 30, 518–529.CrossRefGoogle ScholarPubMed
Nyland, H. & Skre, H. (1977). Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyroidism. Acta Neurologica Scandinavica 56, 309–325.Google Scholar
Ogata, A., Ishida, S. & Wada, T. (1987). A survey of 37 cases with basal ganglia calcification (BGC): CT-scan findings of BGC and its relationship to underlying diseases and epilepsy. Acta Neurologica Scandinavica 75, 117–124.Google Scholar
Okada, J., Takeuchi, K., Ohkado, M. & Hoshina, K. (1981). Familial basal ganglia calcifications visualized by computerized tomography. Acta Neurologica Scandinavica 64, 273–279.CrossRefGoogle ScholarPubMed
Palubinskas, A. J. & Davies, H. (1959). Calcification of the basal ganglia of the brain. American Journal of Roentology 82, 806–822.Google Scholar
Philpot, M. & Lewis, S. (1990). Psychopathology of basal ganglia calcification. Behavioural Neurology 2, 227–234.Google Scholar
Pilleri, G. (1966). A case of Morbus Fahr (nonarteriosclerotic, idiopathic intracerebral calcification of the blood vessels) in three generations. Psychiatrica et Neurologia (Basel) 152, 43–58.CrossRefGoogle ScholarPubMed
Puvanendran, K., Low, C. H., Boey, H. K. & Tan, K. P. (1982). Basal ganglia calcification on computer tomographic scan. A clinical and radiological correlation. Acta Neurological Scandinavica 66, 309–315.Google Scholar
Puvanendran, K. & Wong, P. K. (1980). Idiopathic familial basal ganglia calcification associated with juvenile hypertension. Journal of Neurology, Neurosurgery and Psychiatry 43, 288.Google Scholar
Roberts, P. D. (1959). Familial calcification of the cerebral basal ganglia and its relation to hypoparathyroidism. Brain 82, 599–609.Google Scholar
Schafroth, H. J. (1958). Familiäre symmetrische Gehirnverkalkung. Schweizerische medizinische Wochenschrift 88, 1269–1273.Google Scholar
Slater, S. (1970). An evaluation of the metacarpal sign (short fourth metacarpal). Pediatrics 46, 468–471.Google Scholar
Spiegel, A. M. (1989). Pseudohypoparathyroidism. In The Metabolic Basis of Inherited Disease (ed. Scriver, C. R., Beaudet, A. L., Sly, W. S. and Valle, D.) 6th edn. pp. 2013–2027. McGraw-Hill: New York.Google Scholar
Steinbach, H. L. & Young, D. A. (1966). The roentgen appearance of pseudohypoparathyroidism (PH) and pseudo-pseudohypoparathyroidism (PPH). American Journal of Roentology 97, 49–66.Google Scholar
Strobos, R. R. J., De La Torre, E. & Martin, J. F. (1957). Symmetrical calcification of the basal ganglia with familial ataxia and pigmentary macular degeneration. Brain 89, 313–318.Google Scholar
Terman, L. M. & Merill, M. A. (1961). Stanford-Binet Intelligence Scale. Harrap: London.Google Scholar
Trautner, R. J., Cummings, J. L., Read, S. L. & Benson, D. F. (1988). Idiopathic basal ganglia calcification and organic mood disorder. American Journal of Psychiatry 145, 350–353.Google Scholar
Wechsler, D. (1986). The Wechsler Adult Intelligence Scale. Revised Anglicized Version. Psychological Corporation: Sidcup.Google Scholar
Wechsler, D. & Stone, C. P. (1945). The Wechsler Memory Scale. Psychological Corporation: New York.Google Scholar