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

Abstract

SynopsisAlthough 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.

Basal ganglia calcification and psychotic symptoms in the very old

“…BGC may be caused by a number conditions including carbon monoxide and lead intoxication, birth anoxia, therapeutic radiation, methothrexate treatment, long term anticonvulsant therapy, some inflammatory and infectious diseases (Lopez-Villegas et al, 1996), hyperparathyroidism, and hypercalcemia (Flint and Goldstein, 1992;Harrington et al, 1981). The latter two conditions are also associated with psychotic symptoms (Francis, 1979;Ebel et al, 1992;Rosenthal et al, 1997;Gomille et al, 2001).…”

The clinical utility of 99mTc-HMPAO SPECT in Fahr’s disease

“…The term Fahr's disease became widely used after Fahr [2] reported microscopic calcifi cations of the white matter in the cerebral hemisphere of a person examined in an autopsy in 1930. The clinical pattern of the disease is variable and important because radiologists may view BGC as an incidental fi nding [3]. Incidental discovery of BGC prior to age 50 merits diagnostic investigation [4].…”

Familial idiopathic basal ganglia calcification (Fahr's disease) without neurological, cognitive and psychiatric symptoms is not linked to the IBGC1 locus on chromosome 14q

“…An autosomal dominant pattern of inheritance has been described in ten out of 11 families with familial IBGC (Ellie et al 1989;Manyam et al 1992;Flint and Goldstein 1992;Kobari et al 1997) and an autosomal recessive pattern in one family (Smits et al 1983). Recently, a locus for IBGC has been identified on chromosome 14q in a large multigenerational pedigree (Geschwind et al 1999).…”