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Wave Complexes (wave + complex)

Distribution by Scientific Domains

Medical Sciences	83%

Selected Abstracts

Generation of branched actin networks: assembly and regulation of the N-WASP and WAVE molecular machines

BIOESSAYS, Issue 2 2010
Emmanuel Derivery
Abstract The Arp2/3 complex is a molecular machine that generates branched actin networks responsible for membrane remodeling during cell migration, endocytosis, and other morphogenetic events. This machine requires activators, which themselves are multiprotein complexes. This review focuses on recent advances concerning the assembly of stable complexes containing the most-studied activators, N-WASP and WAVE proteins, and the level of regulation that is provided by these complexes. N-WASP is the paradigmatic auto-inhibited protein, which is activated by a conformational opening. Even though this regulation has been successfully reconstituted in vitro with isolated N-WASP, the native dimeric complex with a WIP family protein has unique additional properties. WAVE proteins are part of a pentameric complex, whose basal state and activated state when bound to the Rac GTPase were recently clarified. Moreover, this review attempts to put together diverse observations concerning the WAVE complex in the conceptual frame of an in vivo assembly pathway that has gained support from the recent identification of a precursor. [source]

Mild Generalized Epilepsy and Developmental Disorder Associated with Large Inv Dup(15)

EPILEPSIA, Issue 9 2002
Rosanna Chifari
Summary: ,Purpose: Several studies attempted to clarify the genotype,phenotype correlations in patients with inverted duplication of chromosome 15 [inv dup(15)], which is usually characterized by severe mental retardation and epilepsy in individuals with large duplications including the Prader,Willi/Angelman region. We report two patients with inv dup(15) who, in spite of a large duplication, had a mild phenotype including adult-onset epilepsy. This report may help to define the milder spectrum of the syndrome. Methods: A 25-year-old girl with mild mental retardation had a 6-year history of absence seizures, with occasional head drop. Interictal EEG revealed diffuse spike,wave complexes. Epilepsy was well controlled by a combination of lamotrigine (LTG) and valproate (VPA). The other patient, a 27-year-old man with mild mental retardation, had a 5-year history of rare generalized tonic,clonic seizure during sleep, and frequent episodes of unresponsiveness, which appeared to be atypical absence seizures on video-EEG recordings. A combination of VPA and LTG led to a remarkable improvement, although no complete control. Results: Molecular analysis revealed a large inv dup15 in both patients. Conclusions: The discrepancy between the mild phenotype and the severe chromosomal abnormality detected in these two patients further supports the notion that the site of breakpoint might be contributory to the inv dup(15) phenotype. Inv dup(15) should be considered in atypical cases of generalized epilepsy of adult onset without clear-cut etiology. [source]

Clinical and genetic features of human prion diseases in Catalonia: 1993,2002

EUROPEAN JOURNAL OF NEUROLOGY, Issue 10 2004
R. Sanchez-Valle
We describe the clinical and genetic characteristics of the 85 definite or probable human prion diseases cases died between January 1993 and December 2002 in Catalonia (an autonomous community of Spain, 6 million population). Seventy-three (86%) cases were sporadic Creutzfeld-Jakob diseases (sCJD) (49 definite, 24 probable), with a median age at onset of 66 years. The clinical presentation was dementia in 29 cases, ataxia in 14 and visual symptoms in five. The median survival was 3 months. The 14-3-3 assay was positive in 93% cases, 62% presented periodic sharp wave complexes (PSWC) in EEG but only 18% the typical signs on MRI. Forty-eight sCJD were studied for codon 129 PRNP polymorphism: 69% were methionine/methionine (M/M), 14.5% valine/valine (V/V) and 16.5% M/V. Six out of seven V/V cases did not present PSWC and in two survival was longer than 20 months. Eleven cases (13%) were genetic: five familial fatal insomnia and six familial CJD (fCJD). Up to four (67%) fCJD lacked family history of disease, two presented seizures early at onset and one neurosensorial deafness. The only iatrogenic case was related to a dura mater graft. No case of variant CJD was registered. The study confirms in our population the consistent pattern reported worldwide on human prion diseases. Atypical features were seen more frequently in sporadic 129 V/V CJD and fCJD cases. [source]

Hyperostosis cranii in the elderly with various clinical symptoms

GERIATRICS & GERONTOLOGY INTERNATIONAL, Issue 1 2004
Makoto Sohmiya
We report three elderly patients with hyperostosis cranii. Patient 1 had two episodes of unconsciousness; Patient 2, headache; and Patient 3, dementia. On the basis of Moore's classification using skull films, Patients 1 and 2 showed hyperostosis frontoparietalis and Patient 3 had hyperostosis frontalis interna. Electroencephalography showed transient generalized spike and slow wave complexes over the frontal lobes in Patient 1. Magnetic resonance images showed frontal lobes compressed by the thickness of the frontal bones in all patients and the thickness of the parietal bones in Patients 1 and 2. Since the findings in the present cases and those in the literature suggest that hyperostosis cranii could show unexpected neuropsychiatric symptoms, hyperostosis cranii should be checked in elderly patients whose presenting symptoms include epilepsy, dementia, psychiatric disease, headache and so on. Magnetic resonance images should be helpful in examining the relationship between clinical symptoms and the deformation of the brain by the skull. [source]

Periodic electroencephalogram complexes in a patient with variant Creutzfeldt,Jakob disease

ANNALS OF NEUROLOGY, Issue 2 2006
Simona Binelli MD
Objective Based on the current criteria, the diagnosis of "possible" or "probable" variant Creutzfeldt,Jakob disease (vCJD) implies the absence of periodic sharp wave complexes (PSWCs) in the electroencephalogram (EEG). To verify this point, we investigated the development of the EEG changes along the course of the disease in a pateint with vCJD. Methods Long-lasting EEG-polygraphic recordings were performed once a month during the last year of illness. Results We found the occurrence of a typical EEG periodic pattern in the late clinical stage of the vCJD patient. Interpretation In the light of our finding, the diagnostic criteria for vCJD should be amended to include the possibility of a typical periodic EEG in advanced stages of disease in cases with long survival. Ann Neurol 2006;59:423,427 [source]

Clinical diagnosis and differential diagnosis of CJD and vCJD,

APMIS, Issue 1 2002
Inga Zerr
The most widely distributed form of transmissible spongiform encephalopathy, sporadic Creutzfeldt-Jakob disease, typically affects patients in their sixties. Rapidly progressive dementia is usually followed by focal neurological signs and typically myoclonus. The disease duration in sporadic CJD is shorter than in variant CJD (6 months and 14 months, respectively). The clinical diagnosis in sporadic CJD is supported by the detection of periodic sharp and slow wave complexes in the electroencephalogram, hyperintense signals in basal ganglia on magnetic resonance imaging and elevated levels of neuronal proteins in the cerebrospinal fluid (such as 14-3-3). In contrast to the sporadic form, hyperintense signals in the posterior thalamus ("pulvinar sign") are seen in variant CJD. Following recent developments in diagnostic premortem techniques, clinical criteria for probable sporadic and probable variant CJD were established. Clinicopathological studies on sporadic CJD revealed different phenotypes which are characterized by neuropathological lesion profile, clinical syndrome, codon 129 genotype and type of proteinase K-resistant core of the prion protein. Alzheimer's disease and Lewy body dementia are the most frequent differential diagnoses in sporadic CJD in elderly patients, whereas chronic inflammatory disorders of the central nervous system have to be considered in younger patients. [source]