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We present a 36-year-old woman with a 3-year history of cognitive decline followed by development of a small stepped gait and urinary and fecal incontinence. Workup revealed multiple bone cysts documented by X-ray and idiopathic hyperprolactinoma. An MRI confirmed the CT finding of massive bilateral basal ganglia calcification. This is the first case of polycystic lipomembranous osteodysplasia described in Germany. We conclude that patients with presenile dementia, psychosis, or early-onset Parkinsonism associated with basal ganglia calcification should undergo X-rays of hand and feet to rule out polycystic lipomembranous osteodysplasia.

In most patients with basal ganglia calcification no disturbance of calcium metabolism is present. We present four patients with basal ganglia calcification. Two suffered from a secondary hypoparathyroidism following a complicated strumectomy years ago, one had an Alport-Syndrome and hypoparathyroidism. Her mother showed basal ganglia calcification and an abortive Alport-Syndrome as well, but no hypoparathyroidism.

Wilson's disease is a rare, autosomal recessive disorder of copper metabolism due to low serum ceruloplasm, resulting in increased copper deposition, especially in the liver and basal ganglia in the brain. The pseudosclerotic type of Wilson's disease, also known as the Westphal-Strümpell form, is distinguished by positional tremor, ataxia and dysarthria as the main symptoms. We use the example of a 23-year-old patient whose neurological symptoms were preceded by a long history of a schizophrenic-like disorder. Clinical symptoms are presented. MRI, SPECT and PET images are illustrated. Therapy and outcome are discussed.

An extrapyramidal disorder occurring in three generations of a family (only males) is described The clinical features were progressive dementia and extrapyramidal signs without choreiform hyperkinesia. The youngest patient (onset of disease at the age of 22 years) showed tremor, rigidity, ataxia, convulsions, and myoclonus. The neuropathologic findings were characterized by isolated symmetrical degeneration of the corpus striatum and diffuse cortical atrophy without affecting other cerebrospinal neuronal systems. The clinical features of this familial disorder and its relation to other types of familial striatal degeneration and to the juvenile form of Huntington's chorea are discussed.

Two patients (mother and son) with Hallervorden-Spatz's syndrome were examined both via CT and Nuclear Magnetic Resonance (NMR), using different measuring modes. In the patient with progressing disease pathological findings were seen in the right and left putamen with CT and NMR. All examinations in the mother with a less progressive syndrome were without any result. Information obtained via NMR did not yield significantly more relevant data than computed tomography.

41 patients who had been diagnosed as having essential tremor at least two years previously have been controlled. In 39 cases this diagnosis was confirmed. One patient was completely symptom-free after bilateral thalamotomy and another patient was now considered to have Parkinson's disease which had been discussed already four years before. 61% of the patients gave a positive family history for essential tremor, only two had non-first degree relatives suffering from Parkinson's disease. The present study does not provide any evidence for a correlation between essential tremor and Parkinson's disease. However, it should be noted that discrete other "extrapyramidal" signs may occasionally be found in patients having essential tremor.

We evaluated the diagnostic value of EEG tracings in cases of non-arteriosclerotic symmetrical calcification of the basal ganglia (Fahr's syndrome). The group of 41 tracings was composed of probands and patients of a family with hereditary occurrence of the syndrome and other patients where the characteristic calcifications were discovered by chance or in CT screening of persons who had undergone thyroidectomy. The comparison of our EEG results with those presented in the relevant literature yielded no discernable diagnostic value of the investigation. All kinds of alterations of central electrophysiological activity seem possible, at least in our collection, similar to previous findings, but no characteristic EEG pattern associated with Fahr's syndrome was seen. Only a vague correlation of alterations to the age of patient could be surmised, this being, of course, wholly unspecific. Thus psychopathology, neurological data and CT are the prime techniques for diagnosis of Fahr's syndrome, the EEG so far offering only marginal assistance.

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.