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

We reported two families each propositus of which exhibited extrapyramidal signs and dementia with bilateral basal ganglia calcifications (BGC), while some of the other non-symptomatic family members showed BCG on brain CT by further examinations. Family 1) A 49-year-old woman was normal until her mid 40s when her memory began to fail. At age 40, dementia, finger-tremor and rigidity were observed and with brain CT and Magnetic Resonance Imaging, BCG and dentate calcifications were found. Her two daughters (20 years old and 26 years old) were free of any neuropsychiatric symptoms, but with CT examinations disclosed BCG. Family 2) A 40-year-old man. His symptoms started at 33 years old. He noticed gradually increasing finger-tremor, rigidity and dysarthria. At 40 years he showed mild dementia and BCG on Brain CT. His mother (64 years old) was non-symptomatic but CT showed that she had BCG. In the two families the calcium, phosphorous and parathyroid hormone levels, and Ellsworth-Howard test were normal. Other specific etiology including infections and somatic abnormalities was not discovered. Familial idiopathic basal ganglia calcification was considered to be rare. But the main purpose of this report is to point out that we must pay attention to the possibility of BCG of non-symptomatic family members if one showed dementia and extrapyramidal signs, and BCG on Brain CT in middle age.
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PMID:[Two cases of familial idiopathic basal ganglia calcifications (BCG) with non-symptomatic family members]. 204 99

Rapid measurement of serum intact parathyroid hormone concentration was achieved by modification of an immunoradiometric assay for the hormone. Incubation of serum samples for 15 min at 37 degrees C under shaking gave optimal results in terms of assay variance and reproducibility: intra-assay CVs were less than 10% over the hormone concentrations of 11-1,600 pg/ml; intra- and inter-assay CVs for two control sera at different hormone levels were less than 12%. The minimal detectable hormone concentration was found at 27.8 pg/ml. The serum hormone levels of 43 subjects (31 health subjects, 9 patients with primary hyperparathyroidism, and 3 patients with secondary hyperparathyroidism) determined by either rapid or regular assay well correlated with each other (r2 = 0.979, p less than 0.001). In two patients with parathyroid adenoma serum intact PTH levels fell rapidly to 12.1% of the preoperative values 20 min after ligation of the vascular pedicle to the hyperfunctioning glands. We conclude that the modified assay protocol allows rapid, accurate, and simple estimation of intact PTH concentrations, and can be used as an intraoperative measure to aid both diagnosis and surgical cure of hyperparathyroidism.
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PMID:[Rapid measurement of human parathyroid hormone-(1-84) by immunoradiometric assay for use in intraoperative determination of hyperfunctioning parathyroid glands]. 234 80

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

Autosomal dominant hypocalcemia, caused by activating mutations of the calcium-sensing receptor (CASR) gene, is characterized by hypocalcemia with an inappropriately low concentration of parathyroid hormone (PTH). In this report, we describe the identification of a novel missense mutation in the CASR gene, in a boy with autosomal dominant hypocalcemia. Polymerase chain reaction (PCR)-single strand and DNA sequencing revealed a heterozygous mutation in CASR gene that causes a leucine substitution for serine at codon 123 (p.Leu123Ser). This mutation was absent in DNA from 50 control patients. In silico studies suggest that the identified variant was likely pathogenic. Sequencing analysis in the mother suggested mosaicism for the same variant, and she was clinically and biochemically unaffected. Clinical manifestations of the index case started with seizures at 14 months of age; cognitive impairment and several neuropsychological disabilities were noted during childhood. Extrapyramidal signs and basal ganglia calcification developed later, namely, hand tremor and rigidity at the age of 7 and 18 years, respectively. Laboratory analysis revealed hypocalcemia, hyperphosphatemia, and low-serum PTH with hypomagnesemia and mild hypercalciuria. After 2 years of treatment with calcium supplements and calcitriol, some brief periods of clinical improvement were reported; as well as an absence of nephrocalcinosis.
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PMID:Novel Mutation in the CASR Gene (p.Leu123Ser) in a Case of Autosomal Dominant Hypocalcemia. 2761 13