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Inheritance of a defect in a neuronal mechanism that regulates response to auditory stimuli was studied in nine families with multiple cases of schizophrenia. The defect, a decrease in the normal inhibition of the P50 auditory-evoked response to the second of paired stimuli, is associated with attentional disturbances in schizophrenia. Decreased P50(More)
Amyotrophic lateral sclerosis (ALS) is a fatal degenerative motor neuron disorder. Ten percent of cases are inherited; most involve unidentified genes. We report here 13 mutations in the fused in sarcoma/translated in liposarcoma (FUS/TLS) gene on chromosome 16 that were specific for familial ALS. The FUS/TLS protein binds to RNA, functions in diverse(More)
OBJECTIVE To estimate the prevalence of confirmed permanent childhood hearing impairment and its profile across age and degree of impairment in the United Kingdom. DESIGN Retrospective total ascertainment through sources in the health and education sectors by postal questionnaire. SETTING Hospital based otology and audiology departments, community(More)
The human alpha7 neuronal nicotinic acetylcholine receptor gene (HGMW-approved symbol CHRNA7) has been characterized from genomic clones. The gene is similar in structure to the chick alpha7 gene with 10 exons and conserved splice junction positions. The size of the human gene is estimated to be larger than 75 kb. A putative promoter 5' of the translation(More)
The mechanism by which mutations in the presenilin (PS) genes cause the most aggressive form of early-onset Alzheimer's disease (AD) is unknown, but fibroblasts from mutation carriers secrete increased levels of the amyloidogenic A beta 42 peptide, the main component of AD plaques. We established transfected cell and transgenic mouse models that coexpress(More)
OBJECTIVES To show that hearing loss has such a high prevalence in the older population to justify screening, if effective and acceptable methods are available; and that population take-up and benefit can make a measurable outcome difference in quality of life. DESIGN A population study of people aged 55-74 years was undertaken. A clinical effectiveness(More)
BACKGROUND This review was commissioned because of the increasing doubt about the ability of existing screening programmes (mainly the health visitor distraction test (HVDT) at 7-8 months) to identify children with congenital hearing impairment, and technological advances which have made neonatal hearing screening an alternative option. OBJECTIVES To(More)
OBJECTIVES To describe and analyse in detail current practice of school entry hearing screening (SES) in the UK. DATA SOURCES Main electronic databases were searched up to May 2005. REVIEW METHODS A national postal questionnaire survey was addressed to all leads for SES in the UK, considering current practice in terms of implementation, protocols,(More)
In the Nottingham District Health Authority we found that one in 943 babies born between 1983-1986 have a sensorineural or mixed hearing impairment (at 50 dB HL or greater in the better ear averaged over the frequencies 0.5, 1, 2, 4 kHz) that is either congenital or progressive in nature. If this figure is broken down between non-neonatal intensive care(More)