Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0040822 (tremor)
 18,428 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A family from Western Norway is described in which 5 out of 9 members in one generation developed a progressive encephalopathy in middle life. Massive, symmetrical calcifications located in basal ganglia, dentate nuclei and cerebral sulci of the brain were seen on roentgenograms of the skull. All affected members exhibited a clinical syndrome which included mental deterioration, extrapyramidal motor deficit, cerebellar ataxia and tremor. The biochemical investigation showed normal serum calcium and phosphorous and concentration of immunoreactive parathyroid hormone was normal. The Ellsworth-Howard test with exogenously administered parathyroid extract revealed a subnormal phosphorous diuresis while urinary excretion of cyclic AMP was normal. Thus, the defect appears to be an insufficient intracellular response to cyclic AMP. The late onset of symptoms is compatible with the slight disturbance in calcium-phosphorous metabolism we have demonstrated. The family probably represents an unusual type of pseudo-pseudohypoparathyroidism of which only one other family has been reported earlier. The investigations and pedigree analysis of the present kindred is suggestive of an autosomal recessive inheritance of the disorder.
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PMID:Cerebral calcinosis with late onset encephalopathy. Unusual type of pseudo-pseudohypoparathyreoidism. 20 54

A case of pseudohypoparathyroidism (PHP) type 1 with systemic lupus erythematosus (SLE) is reported. A 36-year-old women was admitted to our hospital with the complaints of dyspnea, arthralgia, tetany and tremor. Laboratory findings on admission showed; leukopenia, thrombocytopenia, hypocalcemia, positive antinuclear, anti-RNP, anti-Sm antibodies. A diagnosis of PHP type 1 was made from the findings of Albright's osteodystrophy and Ellsworth-Howard test. On the basis of various auto antibodies and clinical findings, the patient was diagnosed as SLE, too. She was started on a therapy of prednisolone at a dose of 40 mg per day. Her clinical manifestations immediately became better, and her laboratory findings subsequently improved. Up to the present, the case report of overlapping syndrome of PHP type 1 and SLE is very rare. Both PHP and SLE were considered to be in a category of autoimmune disease and the relationship between PHP and SLE was discussed.
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PMID:[A case of pseudohypoparathyroidism type 1 with systemic lupus erythematosus]. 281 8

A 20 year old woman with pseudohypoparathyroidism, Parkinsonism and no basal ganglia calcifications shown by computed tomography is reported. She has typical features of pseudohypoparathyroidism and biochemical evidence of end-organ resistance to parathyroid hormone. She is mentally retarded and has tremor, rigidity, bradykinesia, and stooped posture. The cause of Parkinsonism in pseudohypoparathyroidism is thought to be basal ganglia calcification. This patient must have another pathophysiology, perhaps directly related to a G protein defect, causing impaired neurotransmission.
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PMID:Pseudohypoparathyroidism, parkinsonism syndrome, with no basal ganglia calcification. 340 68

Diseases affecting the basal ganglia and deep brain structures vary widely in etiology and include metabolic, infectious, ischemic, and neurodegenerative conditions. Some neurologic diseases, such as Wernicke encephalopathy or pseudohypoparathyroidism, require specific treatments, which if unrecognized could lead to further complications. Other pathologies, such as hypertrophic olivary degeneration, if not properly diagnosed may be mistaken for a primary medullary neoplasm and create unnecessary concern. The deep brain structures are complex and can be difficult to distinguish on routine imaging. It is imperative that radiologists first understand the intrinsic anatomic relationships between the different basal ganglia nuclei and deep brain structures with magnetic resonance (MR) imaging. It is important to understand the "normal" MR signal characteristics, locations, and appearances of these structures. This is essential to recognizing diseases affecting the basal ganglia and deep brain structures, especially since most of these diseases result in symmetrical, and therefore less noticeable, abnormalities. It is also crucial that neurosurgeons correctly identify the deep brain nuclei presurgically for positioning deep brain stimulator leads, the most important being the subthalamic nucleus for Parkinson syndromes and the thalamic ventral intermediate nucleus for essential tremor. Radiologists will be able to better assist clinicians in diagnosis and treatment once they are able to accurately localize specific deep brain structures.
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PMID:MR anatomy of deep brain nuclei with special reference to specific diseases and deep brain stimulation localization. 2457 32