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)

Kennedy-Alter-Sung (KAS) disease in a hereditary lower motor neuron disease. In this study, we investigate 2 KAS patients presenting with progressive muscle weakness and wasting, action tremor, perioral fasciculation and gynecomastia. Three carriers and 5 healthy members from this 3-generation KAS Chinese family and 60 normal Chinese controls were included in this study. Hormone studies revealed normal serum level in thyrotropin, prolactin, testosterone, leuteinizing hormone, follicle stimulating hormone, and estradiol. Lipid study disclosed type IV hyperlipoproteinemia in 2 KAS patients and 3 healthy members. Molecular studies revealed that the number of CAG triplet repeats in the first exon of androgen receptor gene of the normal allele is in the range of 15-19 and 12-25 in this family and normal controls, respectively. However, the number of CAG repeat of androgen receptor gene were unstable in the mutant alleles with a range of 41-45 and increased from generation to generation (genomic anticipation) in the 2 KAS patients and 3 female carriers. We conclude that the CAG triplet repeats in mutant allele were unstable in the family with the KAS disease. Furthermore, type IV hyperlipoproteinemia may be a co-transmitted syndrome in the family with KAS disease.
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PMID:Type IV hyperlipoproteinemia and moderate instability of CAG triplet expansion in the androgen-receptor gene. Lipid, sex hormone and molecular study in a Chinese family with Kennedy-Alter-Sung disease. 861 Apr 94

We describe clinical, biochemical, and molecular studies on a Taiwanese family with X-linked recessive bulbospinal neuronopathy. There were three probands and five female carriers among the 23 members examined. The clinical manifestations included progressive muscle weakness, diffuse fasciculation, postural tremor, muscle cramps, dysarthria, dysphagia, diabetes, and gynecomastia. Phenotypic expression varied among the affected subjects. Two carriers also had postural tremor and perioral fasciculation. Endocrine tests were normal except for a mild increase in serum testosterone and/or growth hormone in one patient and one carrier. Type IV hyperlipoproteinemia was observed in two patients, one carrier, and one healthy offspring. Molecular genetic studies confirmed elongation of the CAG triplet repeat in exon 1 of the gene for the androgen receptor. Sequence analysis showed that there were 42 to 43 CAG repeats in the three probands and 42 to 45 in the five carriers. The mutant allele had a tendency to increase by one or two repeats from one generation to the next. The length of CAG repeats at which the mutant allele became unstable was shorter in our family than in previous reports. The normal allele was also unstable and had a tendency to shrink by one of five repeats during transmission. These findings suggest that the number of CAG triplet repeats is variable in both the mutant and normal alleles.
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PMID:X-linked recessive bulbospinal neuronopathy: clinical and molecular studies in a Taiwanese family. 961 61

Clinical, biological and electrophysiological features from a cohort of 39 multifocal motor neuropathies with conduction blocks (NMM with CB) have been studied. There were 29 males and 10 females with an average of 47.3. At the first evaluation, the mean duration of the symptoms was of 8 years with extremes between 1 and 28. Pain and paresthesias were present in respectively 10 and 18 p. 100 of the patients. Fasciculations and cramps were observed in more than 2/3 of the cases. Three patients had tremor at rest. Upper limb muscular weakness was the predominant initial symptom (84.6 p. 100). The weakness always affected distal and unilateral muscles. Radial and cubital nerve distribution are mainly affected and in half of the cases an unilateral motor deficit in the lower limb was associated. Muscle atrophy was frequent (74 p. 100) and rapidly developed in the first 2 years. Reflexes were decreased or absent in 64 p. 100. In 78 p. 100 of cases, biological study showed normal serum immunoelectrophoresis and CSF. IgM anti-GM1 antibodies were found in 24/36 patients. Very high titres were found in 5 cases. All patients had CB in upper limbs. The preferential localizations of the CB were equally at the median and ulnar nerves. Only 7 patients had CB localized to the lower limbs. In many cases, marked reduction of the motor amplitude prevented the detection of CB, marked reduction of the motor amplitude prevented the detection of CB. Moderate fibrillation potentials were found in 28 p. 100 of patients. Giant muscular unit potentials were frequent (21/39). F-waves in nerve with CB were always abnormal with marked increased latencies. Late responses sometimes seemed to be repeater F-waves. Axon reflexes were detected in 5 cases. The late responses abnormalities could precede the block. Clinical, biological and electrophysiological described arguments could may distinguish NMM with CB from motor neuron disease and relate them to the group of chronic demyelinating neuropathies.
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PMID:[Multifocal motor neuropathies with conduction blocks. 39 cases]. 968 22

Kennedy's disease is a rare type of motor neuron disease with a sex-linked recessive trait. DNA studies show a mutation at the androgen receptor gene on the long arm of X chromosome (Xq 11-12) with expanded CAG triplets (more than 347 repeats). We present three patients and one carrier among ten patients of a four generation family with clinical phenotype of the disease. The patients' ages ranged from 50 to 60 years with symptomatology usually beginning around 30 years of age. Patients had gynecomastia, testicular atrophy, muscular weakness, fasciculation, amyotrophy, absent deep tendon reflexes and postural tremor. PCR techniques of DNA analysis showed expanded size of CAG repeats on Xq 11-12 in all the three patients and in the carrier asymptomatic woman. This is the first Brazilian family with genetic molecular diagnosis of Kennedy's disease. This disease must be included in the differential diagnosis of motor neuron disease since it has a distinct prognosis and genetic counseling is mandatory to the carriers.
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PMID:[X-linked recessive bulbospinal muscular atrophy (Kennedy's disease). A family study]. 985 Jul 62

This report concerns an autopsy case of amyotrophic lateral sclerosis (ALS) with unusual clinical and neuropathological findings. The patient was a Japanese man without hereditary burden who was 49 years old at the time of death. His clinical manifestation included dysarthria at age 48, followed by dysphagia, atrophy and fasciculation of the tongue, muscle weakness in the four extremities, tremor, rigidity, increased deep tendon reflexes in the upper and lower extremities, and incoordination of the four extremities. He died of respiratory failure 12 months after the disease onset. No respirator administration was performed throughout the clinical course. The neuropathological examination revealed not only degeneration of upper and lower motor neuron systems, including the presence of Bunina bodies and ubiquitin-immunoreactive neuronal inclusions in the lower motor neurons, but also prominent degeneration of the substantia nigra and dentate nucleus with slight neuronal loss in the locus ceruleus and pontine nucleus. To our knowledge, this is the first reported case of sporadic ALS without dementia and respirator support, showing degeneration of the substantia nigra and dentate nucleus. This report may contribute to the resolution of the question concerning the neuropathological heterogeneity of sporadic ALS with respiratory support.
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PMID:Sporadic amyotrophic lateral sclerosis with multiple system degeneration: a report of an autopsy case without respirator administration. 1054 75

We reported a 52-year-old man and his family with bulbospinal muscle atrophy (BSMA) and gynecomastia. The propositus presented with the clinical picture of late onset progressive bulbospinal muscular atrophy including postural tremor, general hyporeflexia, mild maturity onset diabetes, gynecomastia and sexual impotence. One of his brother and his two sons had gynecomastia. His elder son had ocular movement abnormality, associated movement of facial muscle and finger tremor. One of his brothers showed tongue fasciculation without gynecomastia. None of members examined had abnormal expansion of CAG repeats in the androgen receptor gene. We speculate that this family has a new clinical entity characterized by bulbospinal muscular atrophy with an autosomal dominant inheritance.
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PMID:[A family with probable autosomal dominant bulbospinal muscular atrophy with gynecomastia]. 1068 36

The autopsy findings of an 82-year-old man with history of solitary living in the jungle of Guam, the endemic area of parkinsonism-dementia complex(PDC), for 28 years was reported in this paper. When he was 75 years old, about 20 years later to have come back to Japan, he developed parkinsonism. He noticed bradykinesia and was pointed out masked face, rigidity and tremor in his right hand. After 2 years, he was diagnosed as Parkinson's disease under the third degree of Hoehn-Yahr criteria. He also showed mild cognitive dysfunction, but no pyramidal signs, muscle atrophy of fasciculation at all. Anti-parkinsonian drugs were effective for his motor symptoms. He admitted at age 82 because of anorexia, and died after 3 months. Neuropathological study disclosed neuronal loss and gliosis with Lewy bodies in the substantia nigra, locus coeruleus and dorsal vagal nucleus. There were cortical type Lewy bodies in the limbic system and scanty amount in the neocortex. A few neurofibrillary tangles(NFT) were found in the hippocampus and parahippocampal gyrus, but no dominancy in the second or third layers of the cerebral cortex as reported in PDC. Senile plaques were not observed at all. Although the exact cause of PDC has not been clarified, environmental factors such as water or food seem to influence on the outcome of PDC. However, the pathological findings of the present case were compatible to those of idiopathic Parkinson's disease. Thus it is a very important fact that the present case was not suffered from PDC in spite of his long residence in the endemic area of Guam.
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PMID:[An autopsy of parkinsonism after solitary living in Guam Island for 28 years]. 1072 57

The tergotrochanteral (jump) motorneuron is a major synaptic target of the Giant Fibre in Drosophila. These two neurons are major components of the fly's Giant-Fibre escape system. Our previous work has described the development of the Giant Fibre in early metamorphosis and the involvement of the shaking-B locus in the formation of its electrical synapses. In the present study, we have investigated the development of the tergotrochanteral motorneuron and its electrical synapses by transforming Drosophila with a Gal4 fusion construct containing sequences largely upstream of, but including, the shaking-B(lethal) promoter. This construct drives reporter gene expression in the tergotrochanteral motorneuron and some other neurons. Expression of green fluorescent protein in the motorneuron allows visualization of its cell body and its subsequent intracellular staining with Lucifer Yellow. These preparations provide high-resolution data on motorneuron morphogenesis during the first half of pupal development. Dye-coupling reveals onset of gap-junction formation between the tergotrochanteral motorneuron and other neurons of the Giant-Fibre System. The medial dendrite of the tergotrochanteral motorneuron becomes dye-coupled to the peripheral synapsing interneurons between 28 and 32 hours after puparium formation. Dye-coupling between tergotrochanteral motorneuron and Giant Fibre is first seen at 42 hours after puparium formation. All dye coupling is abolished in a shaking-B(neural) mutant. To investigate any interactions between the Giant Fibre and the tergotroachanteral motorneuron, we arrested the growth of the motorneuron's medial neurite by targeted expression of a constitutively active form of Dcdc42. This results in the Giant Fibre remaining stranded at the midline, unable to make its characteristic bend. We conclude that Giant Fibre morphogenesis normally relies on fasciculation with its major motorneuronal target.
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PMID:Synaptogenesis in the giant-fibre system of Drosophila: interaction of the giant fibre and its major motorneuronal target. 1106 Feb 45

Muscular hyperkinesias can be visualized by means of ultrasound (US): Ultrasonographic detection of fasciculations has been best evaluated. However, so-called ripplings, myoclonias and choreatic hyperkinesias as well as tremores can also be visualized by US. Muscular US has proven as a precise imaging technique for the detection of fasciculations. Fasciculations are brief, localized muscle twitches, usually lasting for 0.2 - 0.5 seconds. Some myoklonias may present similar in US, others present with a longer duration. In addition, muscle US allows a very easy and reliable detection of tremor frequency. This article reviews the present ultrasonographic facilities in the detection of muscular hyperkinesias and gives future perspectives.
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PMID:[Detection of fasciculations and other types of muscular hyperkinesias with ultrasound]. 1536 36

Facet joint cysts are commonest at the L4-L5 level and are associated with facet joint degeneration and type III (degenerative) spondylolisthesis. It is extremely rare for facet joint cysts to cause symptomatic cauda equina compression. Three elderly patients presented to us with significant cauda equina compression caused by facet joint cysts. One presented with classic symptoms and signs of a cauda equina syndrome, a second with bilateral lower limb neurologic loss associated with uncontrolled epilepsy, and the third with bilateral leg symptoms as well as an upper limb tremor and fasciculation. The diagnosis was easily made after magnetic resonance scanning in two patients, although in one patient, it was significantly delayed because of his confounding neurologic picture. Lumbar spine surgery (decompression and cyst resection) was successful in resolving symptoms in all three, even though two patients had significant neurologic compromise before surgery. The occurrence of facet joint cysts in older patients can be associated with other degenerative neurologic conditions, and the diagnosis might not be apparent early. We suggest that in older patients who have a mixed picture of central and peripheral neurologic compromise, this diagnosis should be considered and investigation of the whole of the spine, not just the brain and spinal cord, should be undertaken.
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PMID:Facet joint cysts causing cauda equina compression. 1538 86


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