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

A 29-year-old man who had a taste for peanuts frequently showed abnormal behaviors. Physical examination revealed consciousness disturbance associated with flapping tremor, hypotonus in the extremities, and hypoactive deep tendon reflexes. Laboratory examination showed hyperammonemia with mild liver injury. A level of serum citrulline was 14 times higher than the upper limit of normal. A diagnosis of type 2 citrullinemia (Seheki et al) was established by the decreased argininosuccinate synthetase (ASS) in liver with low amount of ASS protein and normal kinetic properties. Diurnal fluctuation of consciousness level in this patient was not correlated with the concentration of ammonia in serum, but with that in cerebrospinal fluid. Main metabolic pathway of ammonia in brain is considered to be localized in astrocytes which have receptors for glucocorticoids. Glucocorticoids induce additional glutamine synthetase activity. Circadian rhythm of cortisol level might play a role in diurnal fluctuation of consciousness level in patients with citrullinemia.
 ...
PMID:[The correlation of consciousness level and the concentration of CSF ammonia in a patient with adult-type citrullinemia]. 178 64

Evaluations were made of the diurnal variations of tremor power at rest, after fatigue and after mass loading, and plasma norepinephrine in patients with familial essential tremor and normal subjects. Diurnal tremor power rhythms for both essential and physiological tremor pursued identical temporal profiles. Plasma norepinephrine levels followed a congruent diurnal pattern with later peak values than the peak values of tremor power. Sympathetic nervous system activity is unlikely to be the cause of diurnal tremor power variation. The consistent diurnal rhythm of tremor power may affect dosage schemes of tremorolytic drugs.
 ...
PMID:Diurnal variation of essential and physiological tremor. 188 May 13

Tremor amplitude was monitored in untreated patients with essential tremor by a procedure designed to minimise fluctuations due to factors known to influence tremor. Tremor was measured hourly for 6 hours in 14 patients and on five to seven occasions (separated by at least a week) in 22 patients. A wide range of within-patient variability was found, with some patients showing little and others showing considerable fluctuations in amplitude over the series of recordings. There was no simple relationship between variability and mean amplitude, frequency, age, duration of tremor or response to a single oral dose of propranolol. Variability did not differ between males and females or between patients with and without a family history of tremor. Diurnal fluctuations showed no consistent pattern. Long-term assessment revealed a significant trend towards lower amplitudes on successive occasions. To overcome systematic bias in data collection, clinical trials in essential tremor should employ large numbers of patients and rigorous randomisation of treatments in cross-over designs.
 ...
PMID:Variability in amplitude of untreated essential tremor. 361 50

Progressive dystonia with diurnal fluctuations sensitive to levodopa, also known as Segawa's disease, is a rare form of autosomal dominant extrapyramidal disease in the pediatric age group. The dystonic and Parkinson-like symptoms are the main clinical features of the disease and, characteristically but not in all cases, show a diurnal variation. They are absent or present to a lesser extent in the morning, worsening during the day. Treatment with small doses of levodopa results in remission or marked improvement of the symptomatology. We present the case of a 11 years old female patient that developed a dystonic posture in her feet that led her to a tip-toe walking pattern, since the age of 2. Diurnal fluctuations of the symptomatology were noticed by her mother. At 7 years of age she developed a left deviation of the head and an abnormal flexor posture of the left arm. In the next years the symptoms progressed and the fluctuations became less evident. At the age of 10, they were present soon after she woke up in the morning. The neurological examination disclosed a dystonic posturing of the head and left arm, a generalized rigidity of the extremities and a palpebral tremor. Laboratory examinations, including copper and ceruloplasmin, and neuro-imaging studies were negative. She was started on levodopa 150 mg/day with prompt disappearance of the symptomatology. After one-year follow-up she is symptom-free with only 100 mg/day of levodopa. No adverse effect was observed so far.
 ...
PMID:DOPA-sensitive progressive dystonia of childhood with diurnal fluctuations of symptoms: a case report. 748 43

We report the clinical features of four female patients with dopa-responsive dystonia (DRD), and the survey of the family members. The patients were 2 sisters and 2 sporadic patients from 3 families. Their age of onset ranged between 5 and 13 years. The clinical manifestation was characterized by limb dystonia which was relieved by L-dopa treatment. Diurnal fluctuation disappeared 15 years later in one patient. There was a wide spectrum of Parkinsonian features and variability of dystonia. Response of L-dopa was still excellent 20 years later. In survey of the family members, there was neither bradykinesia, rigidity, tremor nor dystonia.
 ...
PMID:Dopa-responsive dystonia: clinical and family study in Taiwanese. 868 79

Among heterogeneous diseases manifested by parkinsonism beginning early in life, there is a disease presenting with marked diurnal fluctuation of symptoms, called autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF). To identify the characteristics of this condition as a disease entity, we examined the clinical manifestations of AR-EPDF patients (Group I, n = 42) in comparison with those of early-onset parkinsonism patients without diurnal fluctuation (Group II, n = 34). Family history suggesting autosomal recessive inheritance was noted in 85.7% of Group I patients and 17.6% of Group II. The male-to-female ratio was 1: 1.8 in Group I, and 1:0.89 in Group II. Age at onset showed a standard distribution with an average of 25.6 years (SD: +/- 7.7) in Group I and an average of 32.7 with an increasing pattern toward 40 years in Group II. The initial symptom was dystonic gait disturbance in 42.9% of Group I and 5.9% of Group II, parkinsonian gait in 19.9% of Group I and 2.9% of Group II, and tremor in 28.6% of Group I and 41.2% of Group II. The main clinical feature was parkinsonism in both groups. Diurnal fluctuation of parkinsonism was remarkable in all but one (97.6%) of Group I, while it was not observed in Group II. Dystonic postures were noted in 79.4% of Group I and in 37.1% of Group II; hyperactive tendon reflexes in 74.3% of Group I patients and in 20% of Group II. Autonomic symptoms were mild in both groups. None of the Group I patients had dementia while two of Group II did. Levodopa was markedly effective in both groups. Dopa-induced dyskinesia was observed in 96.8% of Group I and in 61.8% of Group II. As for progression of the disease, the Hoehn-Yahr stage of patients on medication was evaluated as 2.2 +/- 0.7 (mean +/- SD) in Group I and 3.1 +/- 1.1 in Group II for a period of 10 to 20 years of onset, 2.5 +/- 0.8 in Group I and 3.3 +/- 0.5 in Group II for 20 to 30 years, and 3.2 +/- 0.9 in Group I and 4.3 +/- 0.6 in Group II after 30 years. There were significant differences between the two groups in the frequency of positive family history, in the mean and distribution of age at onset, in the incidence of dystonic gait as the initial symptom, and in the incidences and medians of the variables including dystonia, hyperreflexia and dopa-induced dyskinesia, as well as in the progression of the disease. Thus, we have successfully characterized the clinical features of AR-EPDF and demonstrated that diurnal fluctuation is a cardinal symptom of this disease. Reported pathologic studies on AR-EPDF showed the nigral lesion characterized by non-Lewy body type degeneration and the occurrence of melanin-poor neurons. These pathologic findings as well as the clinical manifestations differentiate AR-EPDF from Parkinson's disease and from autosomal-dominant familial parkinsonism. Low melanin-content of the nigral neurons is also a striking feature of hereditary progressive dystonia with diurnal fluctuation, in which unlike AR-EPDF there is no neuronal loss in the substantia nigra.
 ...
PMID:[Autosomal recessive early-onset parkinsonism with diurnal fluctuation (AR-EPDF)--clinical characteristics]. 895 46

Segawa disease (hereditary progressive dystonia with marked diurnal fluctuation) is an autosomal dominant, childhood onset, postural dystonia and the first hereditary basal ganglia disorder whose causative enzyme and gene defect were clarified. The initial symptom is unilateral pes equinovarus with marked diurnal fluctuation. Progression becomes slower after mid-teens and stationary after thirties. Postural tremor may occur after 10 years of age, especially after thirties. Parkinsonian resting tremor action and torsion dystonia. and disturbed locomotion do not occur. L-Dopa shows marked and sustained effect without side effects. F-Dopa PET and [11C] raclopride PET of over 20-year-old cases are normal. Deficiency of GTP cyclohydrolase I (GCH-I) was suggested from low CSF biopterin and neopterin. Mutation of GCH-I gene and decreased GCH-I were clarified as etiology. Twenty-five mutations discordant among families have been found. Autopsy of a gene proven case revealed decreased striatal tyrosine hydroxylase (TH) and dopamine (DA) in ventral striatum where direct pathway is predominant. Decreased GCH-I causes decreased tetrahydrobiopterin (BH4), TH and DA in nigrostriatal (NS) terminal. The lowest affinity of BH4 to TH causes selective involvement of DA. Postural dystonia is caused by decreased TH and DA affecting D1-direct pathway. Thalamic ventrolateral and pedunculo-pontine nuclei are spared. Diurnal fluctuation of symptoms is due to diurnal fluctuation of TH and DA at NS-DA terminal. Decreased DA to below 20% of normal, shown by polysomnographical studies, and its physiological age related decremental changes in NS-DA terminal underlies characteristic clinical course. High D2 receptor before early thirties masks D1 related hypertonus and manifest progression before 20 years of age. Other pteridine abnormalities also cause dopa responsive postural dystonia with diurnal fluctuation. A case of juvenile parkinsonism without dystonia showed decreased TH in dorsolateral putamen where indirect pathway is predominant. These suggest that decreased TH due to decreased BH4 involves D1-direct pathway causing dystonia, and decreased TH itself involves D2-indirect pathway causing parkinsonism.
 ...
PMID:[Segawa disease]. 957 70

Thrips cause considerable economic loss to mango, Mangifera indica L., in Penang, Malaysia. Three nondestructive sampling techniques--shaking mango panicles over a moist plastic tray, washing the panicles with ethanol, and immobilization of thrips by using CO2--were evaluated for their precision to determine the most effective technique to capture mango flower thrips (Thysanoptera: Thripidae) in an orchard located at Balik Pulau, Penang, Malaysia, during two flowering seasons from December 2008 to February 2009 and from August to September 2009. The efficiency of each of the three sampling techniques was compared with absolute population counts on whole panicles as a reference. Diurnal flight activity of thrips species was assessed using yellow sticky traps. All three sampling methods and sticky traps were used at two hourly intervals from 0800 to 1800 hours to get insight into diurnal periodicity of thrips abundance in the orchard. Based on pooled data for the two seasons, the CO2 method was the most efficient procedure extracting 80.7% adults and 74.5% larvae. The CO2 method had the lowest relative variation and was the most accurate procedure compared with the absolute method as shown by regression analysis. All collection techniques showed that the numbers of all thrips species in mango panicles increased after 0800 hours, reaching a peak between 1200 and 1400 hours. Adults thrips captured on the sticky traps were the most abundant between 0800-1000 and 1400-1600 hours. According to results of this study, the CO2 method is recommended for sampling of thrips in the field. It is a nondestructive sampling procedure that neither damages flowers nor diminishes fruit production. Management of thrips populations in mango orchards with insecticides would be more effectively carried out during their peak population abundance on the flower panicles at midday to 1400 hours.
 ...
PMID:Diurnal activity of four species of thrips (Thysanoptera: Thripidae) and efficiencies of three nondestructive sampling techniques for thrips in mango inflorescences. 2056 7

Hereditary progressive dystonia with marked diurnal fluctuation (HPD) is a dopa-responsive dystonia, now called autosomal dominant GTP cyclohydrolase 1 deficiency or Segawa disease, caused by mutation of the GCH-1 gene located on 14q22.1 to q22.2. Because of heterozygous mutation, partial deficiency of tetrahydrobiopterin affects tyrosine hydroxylase (TH) rather selectively and causes decrease of TH in the terminals of the nigrostriatal dopamine (NS DA) neurons, projecting to the D1 receptors on the striosome, the striatal direct pathways and the subthalamic nucleus (STN) and the D4 receptors of the tuberoinfundibular tract. The activities of TH in the terminal are high in early childhood decrease exponentially to the stational level around early twenties, and show circadian oscillatron. TH in HPD follows these variations with around 20% of normal levels and with development of the downstream structures show appears characteristic clinical symptoms age dependently. In late fetus period to early infancy, through the striosome-substantia nigra pars compacta pathway failure in morphogenesis of the DA neurons in substantia nigra, in childhood around 6 years postural dystonia through the D1 direct pathways and the descending output of the basal ganglia. Diurnal fluctuation is apparent in childhood but decrease its grade with age. TH deficiency at the terminal on the STN causes action dystonia from around 8 years and postural tremor from around 10 years, focal dystonia in adulthood. Adult onset cases in the family with action dystonia start with writer's cramp, torticollis or generalized rigid hypertonus with tremor but do not show postural dystonia. TH deficiency on the D4 receptors causes stagnation of the body length in childhood. With or without action dystonia depends on the locus of mutation. Postural dystonia is inhibitory disorder, while action dystonia is excitatory disorder. The TH deficiency at the terminal does not cause morphological changes or degenerative process. Thus, levodopa shows favorable effects without any relation to the duration of illness.
 ...
PMID:Hereditary progressive dystonia with marked diurnal fluctuation. 2109 87