[Results of a study of a family with aggregated occurrence of bilateral symmetrical basal ganglia calcinosis].
We present a familial study (45 members), in which 31 members have been examined. Seven were afflicted with bilateral symmetrical calcification of the basal ganglia (Fahr's syndrome), as verified by CT scans. The case history and biochemical results for one additional proband, who had died, strongly indicate that this patient also had Fahr's syndrome. The wide range of examinations used in our study were aimed at excluding differential diagnoses of bilateral symmetrical calcification of the basal ganglia, other than when the origin was suspected to be in the parathyroid. The examinations had to be undertaken on an outpatient basis. Some of the variables, such as Fe, Cu, and Mg in the plasma, are connected with results that have been published on the composition of the apatite deposits. Psychiatric, psychological, neurological, and EEG examinations are emphasized. Together with the case reports they are meant to illustrate the neuropsychiatric aspects of this syndrome, the composite view of which has often been previously neglected. Nineteen of 31 probands showed neurological, psychopathological, psychological, and encephalographical deviations. We also noted a high incidence of organic brain syndromes that are phenomenologically similar to affective disorders. We believe these deviations to be directly related to morphological alterations of the basal ganglia, possibly due to errors in phosphorous and calcium metabolism. Although the CT scan has greatly facilitated the diagnosis of intracerebral calcifications, we assume that basal ganglia alterations under the CT-density threshold may also be of clinical importance. Our metabolic results, genetic issues, and neuropsychiatric findings are discussed.
D000293:Adolescent; D000328:Adult; D000368:Aged; D001480:Basal Ganglia Diseases / Q000235:genetics* / Q000523:psychology; D002545:Brain Ischemia / Q000235:genetics; D002114:Calcinosis / Q000235:genetics* / Q000523:psychology; D002118:Calcium / Q000378:metabolism; D002648:Child; D004292:Dominance, Cerebral / Q000502:physiology; D005260:Female; D005500:Follow-Up Studies; D006801:Humans; D008297:Male; D008875:Middle Aged; D019965:Neurocognitive Disorders / Q000235:genetics / Q000523:psychology; D009483:Neuropsychological Tests; D010375:Pedigree; D014057:Tomography, X-Ray Computed
D002118:Calcium
Ergebnisse der Untersuchung einer Sippe mit gehäuftem Auftreten von bilateral symmetrischer stammganglienverkalkung.