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At least 163 records · Page 9Linked to original sources
PubMed2006

Mutations in the GABRA1 and EFHC1 genes are rare in familial juvenile myoclonic epilepsy.

Juvenile myoclonic epilepsy (JME), accounting for approximately 25% of idiopathic generalized epilepsies, is genetically heterogeneous. Mutations in the alpha-1 subunit of the GABAA receptor (GABRA1) and EFHC1 genes have been reported in a few families with autosomal dominant (AD) JME. We have investigated the contribution of these two genes to familial JME in our cohort of 54 JME Caucasian families. Syndromic classification of JME was based on previously published criteria. We considered kindreds with at least one affected first-degree relative and the evidence of a vertical transmission as definite AD JME, and families with at least one affected second-degree relative as probable AD JME. We included 33 families meeting criteria for definitive AD JME and 21 that were classified as probable AD JME. None of these families were considered informative enough to analyze candidate loci for JME using linkage analysis. We have systematically screened coding exons of these two genes using temperature gradient capillary electrophoresis. Every heteroduplex with an abnormal mobility was sequenced. No disease-causing mutations in the GABRA1 gene were identified. Analysis of EFHC1 gene found one putative disease-causing mutation R221H that was previously reported as a tandem mutation. Several synonymous and non-synonymous coding polymorphisms were identified but the allelic frequency did not differ between controls and affected individuals. Our data suggests that the majority of familial AD JME is not caused by mutations in the GABRA1 and EFHC1 genes.

Calcium-Binding Proteins↗
PubMed2006

Familial genetic predisposition, epilepsy localization and antecedent febrile seizures.

PURPOSE: The magnitude of genetic influence in epilepsy may vary in relation to epilepsy classification and localization and factors such as antecedent febrile seizures. We assessed this genetic influence in a large epilepsy population. METHODS: Patients with established epilepsy diagnosis evaluated in the Vanderbilt Epilepsy Program were systematically questioned about family history of epilepsy and febrile seizures, prior febrile seizures and other risk factors for epilepsy. RESULTS: A total of 1994 patients with epilepsy and reliable family history were identified. Patients with prior febrile seizures (FS) were more likely to have a family history of febrile seizures than those without prior FS (p<0.000001) and also had a greater proportion of relatives with febrile seizures. The groups did not differ with respect to family history of epilepsy. Patients with generalized epilepsy were more likely to have first and second degree relatives with epilepsy than those with partial epilepsy (40.2% versus 31.2%, p=0.001), and also had a greater proportion of affected first degree relatives (p<0.000001). The proportion of first degree relatives affected with epilepsy was higher than local published prevalence, for both groups. CONCLUSION: Susceptibility for febrile seizures with subsequent epilepsy may be genetically distinct from susceptibility for afebrile seizures alone. Although family history of epilepsy was more likely with generalized epilepsy, a familial tendency was considerable in partial epilepsy.

Adolescent↗
PubMed2005

Mutations in GABRA1, GABRA5, GABRG2 and GABRD receptor genes are not a major factor in the pathogenesis of familial focal epilepsy preceded by febrile seizures.

GABA(A) receptors mutations have been reported in few epilepsy families with febrile seizures (FS) followed by generalized epilepsy. It is not known if such mutations may underlie FS followed by partial epilepsy, which is a more common type of epilepsy. We searched for disease-causing mutations in the genes of the alpha1, alpha5, gamma2 and delta subunits of the GABA-A receptor that were previously shown to contain epilepsy-causing mutations or epilepsy susceptibility polymorphisms. All coding and untranslated exons of these four GABA(A) subunit genes were screened in 74 unrelated patients with familial partial epilepsy preceded by FS. Most patients had temporal lobe epilepsy (TLE). We did not detect any disease-causing mutations that would be consistent with missense, nonsense or splice site mutations in any of the four analyzed genes. We conclude that these genes are not a major genetic factor in familial TLE preceded by FS.

Adult↗
PubMed1997

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy: study of two American families with predominant dementia.

Few European families have been reported with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL). We describe four patients from two independent American families. All four cases underwent comprehensive clinical, neuropsychological and pathological examination. Pathological data were correlated with clinical features. Dementia was a prominent and constant feature in all subjects. The families differed in phenotypical presentation and we analyzed possible pathological substrates that may account for the differences. Autopsy showed multiple ischemic infarcts in the white matter, abnormal vasculature with thickening and degeneration of the vessel wall. The clinical course in the first family was characterized by early dementia without stroke-like episodes; however, autopsy demonstrated strokes in the basal ganglia and thalamus. The members of the second family developed dementia later and had history of several clinically evident strokes. Pathological examination showed only widespread degeneration of the white matter. Our study of two American families with CADASIL suggests that involvement of the basal ganglia and thalamus is important for early development of dementia and clinically can present as a gradual dementia, resembling a neurodegenerative process. Selective damage of the white matter and central gray matter provides further insight to the pathogenesis of vascular dementia.

Adult↗
PubMed2002

Inherited dementias.

Dementia, defined as progressive cognitive decline, is a feature of a wide variety of genetic disorders. For example, a search of "dementia" in the Online Mendelian Inheritance in Man (www.ncbi.nlm.nih.gov/Omim) reveals 162 entries. Therefore this article cannot be encyclopedic and will be necessarily restricted to more prevalent or illustrative etiologies of familial dementia in adults. These disorders also have in common an initial and primarily dementing clinical presentation. Thus, this article is limited to: familial Alzheimer's disease (AD) and related amyloid angiopathies, frontotemporal dementias (FTD) and related tauopathies, familial prion diseases, British and Danish familial dementias, and cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL).

Alzheimer Disease↗
PubMed2006

Mechanisms of cuticular uptake of xenobiotics into living plants: evaluation of a logistic-kinetic penetration model.

The objective of this study was to determine whether a logistic-kinetic penetration model could be applied to whole plant uptake. Uptake over 24 h was determined for three model compounds, applied in the presence and absence of surfactants, into the leaves of two plant species. Data for two time intervals were used in the model to predict uptake at intermediate intervals and compared with experimental results. Overall, the model fit the whole plant uptake data well. The study confirmed that an increase (or decrease) in active ingredient (ai) concentration or an increase in contact area will have no effect on the penetration rate factor, q, within the normal working concentration range. This enabled uptake to be predicted at different times for concentrations of ai not already studied, having first derived q for one concentration of the formulation of interest and having 24 h (maximum) uptake results for all formulations and concentrations of interest. The advantages of the models and equations described are that few variables are required, and they are simple to measure.

Carbon Radioisotopes↗
PubMed2001

Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia.

The hereditary spastic paraplegias (HSPs; Strümpell-Lorrain syndrome, MIM number 18260) are a diverse class of disorders characterized by insidiously progressive lower-extremity spastic weakness (reviewed in refs. 1-3). Eight autosomal dominant HSP (ADHSP) loci have been identified, the most frequent of which is that linked to the SPG4 locus on chromosome 2p22 (found in approximately 42%), followed by that linked to the SPG3A locus on chromosome 14q11-q21 (in approximately 9%). Only SPG4 has been identified as a causative gene in ADHSP. Its protein (spastin) is predicted to participate in the assembly or function of nuclear protein complexes. Here we report the identification of mutations in a newly identified GTPase gene, SPG3A, in ADHSP affected individuals.

Amino Acid Sequence↗
PubMed2006

Efficacy and tolerability of a fluid extract combination of thyme herb and ivy leaves and matched placebo in adults suffering from acute bronchitis with productive cough. A prospective, double-blind, placebo-controlled clinical trial.

STUDY OBJECTIVE: To assess the efficacy and tolerability of a fixed fluid extract combination of thyme and ivy leaves (thyme-ivy combination) and matched placebo in patients suffering from acute bronchitis with productive cough. METHODS: In a double-blind, placebo-controlled, multicentre Phase IV study 361 outpatients with acute bronchitis and > or =10 coughing fits during the day, onset of bronchial mucus production with impaired ability to cough up at a maximum of 2 days prior to recruitment, and a Bronchitis Severity Score (BSS) > or =5 score points were randomly assigned to an 11-day treatment (5.4 ml three times daily) with either thyme-ivy combination syrup (Bronchipret Saft; N=182) or placebo syrup (N=179). After the baseline examination (Visit 1 = Day 0), 2 control examinations were scheduled (Visit 2 = Day 4; Visit 3 = Day 10/end of treatment). The efficacy of study treatment on acute bronchitis was evaluated by the patient's daily counting of coughing fits during the daytime (manual counter), assessment of acute bronchitis related symptoms and by the investigator's assessment of the most important symptoms of acute bronchitis using the BSS. Evaluation of tolerability was based upon adverse event (AE) monitoring, measurement of vital signs as well as the Primary outcome was the change in frequency of coughing fits during daytime on days 7-9 according to patient's accurate daily recording with a manual counter and documentation in the diary. Treatment effects were analysed by analysis of variance (ANOVA) adjusted for centre effects. Due to significant deviation from the "preconditions" of the ANOVA, the Wilcoxon test (stratified by centre) was carried out additionally. RESULTS: The mean reduction in coughing fits on days 7 to 9 relative to baseline was 68.7% under thyme-ivy combination compared to 47.6 % under placebo (p < 0.0001). In the thyme-ivy combination group, a 50% reduction in coughing fits from baseline was reached 2 days earlier compared to the placebo group. The symptoms of acute bronchitis (BSS) improved rapidly in both groups, but regression of symptoms was faster and the responder rates (p < 0.0001) compared to placebo were higher at Visit 2 (83.0% vs 53.9%) and Visit 3 (96.2% vs. 74.7%) under the treatment of thyme-ivy combination. Treatment was well tolerated with no difference in the frequency or severity of AEs between thyme-ivy combination and placebo groups. Severe or serious AEs were not reported. CONCLUSION: Oral treatment of acute bronchitis with thyme-ivy combination for about 11 days was superior to pla-

Adult↗
PubMed1999

Diagnosis and treatment of Wilson's disease.

Wilson's disease is due to an inherited defect in copper excretion into the bile by the liver. The resulting copper accumulation and copper toxicity results in liver disease, and in some patients, brain damage. Patients present, generally between the ages of 10 and 40 years, with liver disease, neurological disease of a movement disorder type, or behavioral abnormalities, and often with a combination of these. Because Wilson's disease is effectively treated, it is extremely important for physicians to learn to recognize and diagnose the disease. Treatment options have evolved rapidly in the last few years, with zinc now being the drug of choice in most situations.

Adenosine Triphosphatases↗
PubMed1999

Hereditary spastic paraplegia: genetic heterogeneity and genotype-phenotype correlation.

Hereditary spastic paraplegia (HSP) is a group of disorders whose primary symptom is insidiously progressive, lower extremity spasticity and weakness. Neuropathological analysis of "pure" HSP reveals axonal degeneration that is maximal in the terminal portions of the longest descending and ascending tracts (crossed and uncrossed corticospinal tracts to the legs and fasciculus gracilis, respectively). HSP may be transmitted as an X-linked, autosomal recessive, or autosomal dominant trait, each of which is genetically heterogeneous: mutations in different genes cause clinically similar disorders. To date, there are at least three genetic loci for X-linked HSP; at least three genetic loci for autosomal recessive HSP; and at least six genetic loci for autosomal dominant HSP. The genetic basis for three of these twelve forms of HSP have been discovered. One form of autosomal recessive HSP (on chromosome 16) is due to mutations in the paraplegin gene, which encodes a mitochondrial protein homologous to metalloproteases. One form of X-linked HSP is caused by mutations in the proteolipoprotein gene, an intrinsic myelin protein. Mutation in this gene also causes the dysmyelinating disorder, Pelizeaus-Merzbacher disease. X-linked spastic paraplegia can be caused also by mutations in the L1CAM gene. This review summarizes our current understanding of genetic heterogeneity and genotype-phenotype correlation in HSP.

Chromosomes, Human, Pair 2↗
PubMed1999

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q.

Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous group of disorders characterized by insidiously progressive spastic weakness in the legs. Genetic loci for autosomal dominant HSP exist on chromosomes 2p, 14q, and 15q. These loci are excluded in 45% of autosomal dominant HSP kindreds, indicating the presence of additional loci for autosomal dominant HSP. We analyzed a Caucasian kindred with autosomal dominant HSP and identified tight linkage between the disorder and microsatellite markers on chromosome 8q (maximum two-point LOD score 5.51 at recombination fraction 0). Our results clearly establish the existence of a locus for autosomal dominant HSP on chromosome 8q23-24. Currently this locus spans 6.2 cM between D8S1804 and D8S1774 and includes several potential candidate genes. Identifying this novel HSP locus on chromosome 8q23-24 will facilitate discovery of this HSP gene, improve genetic counseling for families with linkage to this locus, and extend our ability to correlate clinical features with different HSP loci.

Adult↗
PubMed2004

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

We previously linked Laing-type early-onset autosomal dominant distal myopathy (MPD1) to a 22-cM region of chromosome 14. One candidate gene in the region, MYH7, which is mutated in cardiomyopathy and myosin storage myopathy, codes for the myosin heavy chain of type I skeletal muscle fibers and cardiac ventricles. We have identified five novel heterozygous mutations--Arg1500Pro, Lys1617del, Ala1663Pro, Leu1706Pro, and Lys1729del in exons 32, 34, 35, and 36 of MYH7--in six families with early-onset distal myopathy. All five mutations are predicted, by in silico analysis, to locally disrupt the ability of the myosin tail to form the coiled coil, which is its normal structure. These findings demonstrate that heterozygous mutations toward the 3' end of MYH7 cause Laing-type early-onset distal myopathy. MYH7 is the fourth distal-myopathy gene to have been identified.

Child↗
PubMed1995

Differential degeneration of the cerebral microvasculature in Alzheimer's disease.

We used immunocytochemical methods to define abnormalities in the cerebral endothelium and the vascular basement membrane in patients with Alzheimer's disease (AD) and in aging control subjects. Double immunostaining with antibodies to the endothelial cell markers CD34 and CD31 revealed an absence of endothelial staining in many capillary profiles that still appeared to retain their basement membranes stained by antibodies to collagen IV. Such differential labeling, clearly suggesting capillaries with collapsed or degenerated endothelium, was frequently (> 90% of cases) evident in AD but relatively lacking in brain regions or other diseases and controls (< 30%) free of amyloid beta (A beta) deposits. We suggest that this profound vascular phenomenon is concomitant with A beta deposition and implies abnormalities in the integrity of brain microvasculature related to neuronal degeneration in AD.

Adult↗