CT: basal ganglia calcifications in the proband and in her two asymptomatic parents.
Lauterbach, E. C., Spears, T., Prewett, M. J., et al.
Neuropsychiatric disorders, myoclonus, and dystonia in calcification of basal ganglia pathways [18]
2 M
Patient 1: 44 Patient 2: 40
Both patients had cognitive dysfunction, temporal lobe-like symptoms (including amnestic state, perceptual distortions, or complex visual hallucinations), and myoclonus
Patient 1: CT with contrast: Bilateral medial and lateral pallidal calcification anteromedially. Thyroid T3, I4, T, and thyroid-stimulating hormone were all normal. Patient 2: MRI: bilateral holo-anterior globus pallidus calcification measuring 1 cm on the right and 1/2 cm on the left at the time of examination.
Flint, J., & Goldstein, L. H.
Familial calcification of the basal ganglia: a case report and review of the literature [19]
Pt 1: M Pt 2: F
Patient 1: 31 Patient 2: 67
Delusions that celebrities were jealous of his song-writing talent and were threatening him, third person auditory hallucinations, thought broadcasting and the belief that people knew what he was thinking. Slight choreiform movements of the arms; repetitive movements were slow and poor coordination.
Serum calcium, phosphate, alkaline phosphatase and PTH were all normal. Radiologic evaluation: bilateral calcification of the globus pallidus.
Forstl, H., Krumm, B., Eden, S., et al.
Neurological disorders in 166 patients with basal ganglia calcification: a statistical evaluation [20]
59 M 107 F
16-86
No evidence of a significantly increased risk of dementia, cerebral infarction, epilepsy, vertigo, headache, or alcoholism
CTs: 97% of BGC group had calcification in the globus pallidus and 46% had calcification in the putamen. 25 BGC patients showed a circumscribed unilateral calcification of the globus pallidus, and 143 patients showed bilateral mineralization
Francis, A.
Familial Basal Ganglia Calcification and Schizophreniform Psychosis [21]
5 M 3 F
9-53 (9, 13, 27,32, 35,42,44,53)
Persecutory delusions, aggressive behavior and auditory and visual hallucinosis, coarse involuntary movements of the head and trunk, Parkinsonian facies and gait, flattened affect, elevation of mood, pressured speech, paranoia, EPS.
Skull X-ray: bilateral calcifications of the basal ganglia
Vakaet, A., Rubens, R., Reuck, J. D., et al.
Intracranial bilateral symmetrical calcification on CT-scanning [22]
1 F
57
Tonic fit, LOC, tongue biting, urinary incontinence (hx of epilepsy), global dementia, dysarthria, EPS (rigidity) in all four limbs, positive Chvostek’s sign.
CT: extensive bilateral symmetrical calcification in the region of the basal ganglia, nuclei of the cerebellum and the cerebral and cerebellar white matter.
Geschwind, D. H., Loginov, M., & Stern, J. M.
Identification of a Locus on Chromosome 14q for Idiopathic Basal Ganglia Calcification (Fahr Disease) [23]
3 M 9 F
9-73 (9,10,38,40, 41,46,43,58, 52,50,70,76)
Psychosis and schizophreniform psychosis
Whole-genome scan using polymorphic microsatellite markers: Genomic study establishes the first chromosomal locus (IGBC1) and linkage analysis regarding age of onset of familial IBGC produced results consistent with genetic anticipation. CT scan: IBGC
Roiter, B., Pigato, G., & Perugi, G.
Late-onset Mania in a Patient with Movement Disorder and Basal Ganglia Calcifications: A Challenge for Diagnosis and Treatment [24]
1 M
58
Severe delirious-manic episode consisting of irritability, dysphoria, talkativeness, racing thoughts, hyperactivity, distractibility, grandiosity, persecutory delusions, psychomotor agitation, aggressiveness, insomnia, and mental confusion
CT: mild diffuse cortical atrophy and small basal ganglia calcifications but these findings were considered not clinically relevant. CT and brain MRI (for the second episode): moderate diffuse cortical atrophy, especially in frontal and occipital regions, posterior white matter lesions due to chronic vascular ischemia, and small bilateral pallidal calcifications
Johnson, J. M., Legesse, B., Camprodon, J. A., et al.
The clinical significance of bilateral basal ganglia calcification presenting with mania and delusions [25]
1 M
37
New-onset psychotic mania presented with increase in guilt, elated and expansive mood, pressured speech, grandiose delusions (i.e. claiming he was Christ), increased energy, erratic thoughts and activity, impulsive and risk-taking. Presence of delusions of reference.
Complete blood count, basic metabolic panel, liver function tests, TSH, CRP, ESR, were unremarkable, with negative RPR. Serum calcium and intact PTH were within normal limits. Urine drug screen was negative. He did have a positive ANA, at 1:30, in a nonspecific speckled pattern. A heavy-metal screen was negative for arsenic, lead, mercury, and cadmium. CT: small bilateral basal ganglia calcifications.
Philpot, M. P., & Lewis, S. W.
The Psychopathology of basal ganglia calcification [26]
12 M 24 F
Mean affected M- 60 Mean affected F- 71
No psychiatric diagnosis was specifically associated with BGC although calcification of the putamen and the caudate was only found in patients with functional disorders.
No abnormalities of calcium or phosphate metabolism were found.
Trautner, R. J., Cummings, J. L., Read, S. L., et al.
Idiopathic basal ganglia calcification and organic mood disorder [27]
5 M
Pt 1: 55 Pt 2: 47 Pt 3: 56 Pt 4: 56 Pt 5: 49
Organic mood changes, including one patient with secondary mania. Symptoms resemble those of other disorders affecting subcortical structures and support an association between mood, affect, cognition, and the extra-pyramidal nuclear system.
Lab studies were normal amongst all cases. CT of Case 1: dense basal ganglia calcification and periventricular gray matter structures. CT of Case 2: calcification of putamen in basal ganglia. CT of Case 3: calcification in the putamen, caudate, pulvinar, deep sulci of frontal cortex and dentate nuclei. Skull X-ray of Case 3: dense basal ganglia calcification. CT of Case 4: extensive basal ganglia calcification in caudate nuclei, thalami, and dentate nuclei of cerebellum. CT of Case 5: massive intracranial calcifications of basal ganglia, cerebellum, and areas of cerebral white matter.
Cummings, J. L., Gosenfeld, L. F., Houlihan, J. P., et al.
Neuropsychiatric disturbances associated with idiopathic calcification of the basal ganglia [10]
1 M
56
Schizophrenia like psychosis: auditory hallucinations, ideas of reference and influence, psychomotor retardation, and circumstantial speech. Depressed mood.
CT: calcifications symmetrically deposited in the putamen, the pulvinar, a few sulci of the frontal cortex and the dentate nuclei. Skull X-rays: dense calcifications of the basal ganglia and the dentate nuclei of the cerebellum. CSF protein was elevated
Shakibai, S. V., Johnson, J. P., & Bourgeois, J. A.
Fahr’s Disease: An Incidental Finding in a Case Presenting with Psychosis [28]
1 M
24
Aggressive behavior, abusive language, smiling to self, talking to self and ghosts, fear of others, irregular sleep patterns, delusions of persecution, auditory hallucinations.
MRI: symmetrical large areas and foci of calcification in bilateral basal ganglia, thalami, cerebellar parenchyma and subcortical regions of bilateral cerebral hemispheres
König, P.
Psychopathological alterations in cases of symmetrical basal ganglia sclerosis [29]
For both psychiatric and neurological symptoms, no correlations between either localization or volume of intracerebral calcification were noted, excepting cases of dementia, which showed larger hyperdensities. As basal ganglia calcification inflicts morphological damage to the CNS, a deterioration of brain function should occur and, in fact, was identified in terms of either neurological and/or psychiatric symptoms.
Shakibai, S. V., Johnson, J. P., & Bourgeois, J. A.
Paranoid Delusions and Cognitive Impairment Suggesting Fahr’s Disease [7]
1 F
62
Multiple paranoid delusions; beliefs that people were controlling her by manipulating electrical dials, unknown other people were “listening through the walls” of her home, fears that her bed was “magnetized”.
