Monthly Archives: October 2010
PONM04 Myofibrillar myopathy caused by a mutation in the desmin gene: expanding the phenotype
Vocal cord palsy has been described in the autosomal dominant myopathy: vocal cord and pharyngeal weakness with distal myopathy (VCPDM). However, it has not been described in association with a desminopathy and therefore expands the phenotype of this myofibrillar myopathy subgroup.
from the Journal of Neurology, Neurosurgery & Psychiatry with Practical Neurology
POS05 Impairment on Montreal Cognitive Assessment in transient ischaemic attack and stroke patients with normal Mini-Mental State Examination score is clinically relevant
In patients with normal MMSE, impairment on the MoCA is associated with stroke vs TIA, with greater dependency, and with worse performance on neuropsychological battery.
from the Journal of Neurology, Neurosurgery & Psychiatry with Practical Neurology
POD07 Tinnitus and hyperacusis in semantic dementia
Abnormal auditory percepts appear to be relatively common in SemD and may arise from altered coupling between damaged anterior temporal and less affected posterior auditory cortical areas.
from the Journal of Neurology, Neurosurgery & Psychiatry with Practical Neurology
POG08 Novel mitochondrial tRNA mutation associated with migraine, pigmentary retinopathy, leukoencephalopathy and sensorineural deafness
A 34-year-old lady was referred to the headache clinic. She had a long history of migraines starting as a teenager with bilateral throbbing headaches associated with photophobia, phonophobia and nausea with no other focal neurological symptoms. She had bilateral, mild sensorineural deafness which had started as a child, but without a specific diagnosis. There was no other significant past medical history, but there was a strong family history of migraine in her mother, two brothers and a sister. Neurological examination was normal except for florid pigmentary changes in both retinae and bilateral sensorineural deafness. Brain MRI showed extensive periventricular white matter changes confined to the white matter with callosal sparing. Screening for common CADASIL mutations had proven negative. She underwent a muscle biopsy of the left tibialis anterior muscle which showed mild myopathic changes and occasional ragged-red fibres, but histochemistry revealed a high proportion of cyclooxygenase-deficient fibres (60% of the total biopsy), indicative of a primary mitochondrial DNA (mtDNA) aetiology. Common mtDNA mutations were excluded, but sequencing of the entire mitochondrial genome revealed a novel sequence variant m.16023G>A in the tRNAPro (MTTP) gene which was present at high levels of heteroplasmy. The m.16023G>A variant affects an evolutionary conserved residue of the tRNAPro molecule and is the likely explanation for the clinical presentation and muscle biopsy changes.
PATU4 A population-based longitudinal study of cognitive and behavioural impairment in amyotrophic lateral sclerosis
Conclusion/relevance ALS is associated with a high prevalence of cognitive and behavioural change. The consensus guidelines facilitated categorisation of subgroups to track the evolution of cognitive and behavioural impairment over time but more rigorous validation is required prior their use in clinical practice. Those with normal cognitive function at baseline are less likely to develop dementia. Longitudinal studies are ongoing to confirm or refute whether ALS with cognitive impairment represents a distinct subpopulation of ALS or instead a continuum.
from the Journal of Neurosurgery
Behavioral semantics of learning and crossmodal processing in auditory cortex: The semantic processor concept
Two phenomena of auditory cortex activity have recently attracted attention, namely that the primary field can show different types of learning-related changes of sound representation and that during learning even this early auditory cortex is under strong multimodal influence. Based on neuronal recordings in animal auditory cortex during instrumental tasks, in this review we put forward the hypothesis that these two phenomena serve to derive the task-specific meaning of sounds by associative learning. To understand the implications of this tenet, it is helpful to realize how a behavioral meaning is usually derived for novel environmental sounds. For this purpose, associations with other sensory, e.g. visual, information are mandatory to develop a connection between a sound and its behaviorally relevant cause and/or the context of sound occurrence. This makes it plausible that in instrumental tasks various non-auditory sensory and procedural contingencies of sound generation become co-represented by neuronal firing in auditory cortex. Information related to reward or to avoidance of discomfort during task learning, that is essentially non-auditory, is also co-represented. The reinforcement influence points to the dopaminergic internal reward system, the local role of which for memory consolidation in auditory cortex is well-established. Thus, during a trial of task performance, the neuronal responses to the sounds are embedded in a sequence of representations of such non-auditory information. The embedded auditory responses show task-related modulations of auditory responses falling into types that correspond to three basic logical classifications that may be performed with a perceptual item, i.e. from simple detection to discrimination, and categorization. This hierarchy of classifications determine the semantic “same-different” relationships among sounds. Different cognitive classifications appear to be a consequence of the design of a learning task and lead to a recruitment of different excitatory and inhibitory mechanisms and to distinct spatiotemporal metrics of map activation to represent a sound.
from Hearing Research
POD13 White matter connectivity in semantic dementia
Semantic Dementia (SD) is known to be associated with grey matter atrophy of the anterior temporal lobes (ATL). The effect of the disease on white matter fibres has been less extensively studied. Semantic knowledge is thought to be organised in a widely distributed network throughout the brain connected by a number of white matter bundles. We explore the white matter connectivity of the semantic network in subjects with SD and healthy controls. Six subjects with SD and four healthy controls underwent diffusion weighted MR tractography imaging. Region of interest placement was performed to allow reconstruction of specific tracts thought to be involved in the semantic network and other classical language pathways. Tracts were assessed by visual inspection and quantitative atlas based region of interest analysis. SD subjects had a significantly reduced pattern of white matter connectivity from the left ATL. Specific tract reconstructions demonstrated significant reductions in connectivity in the left uncinate, inferior fronto-occipital fasciculi and anterior commissure tract in SD subjects. The arcuate fasciculi did not appear different between groups. The results demonstrate that in SD there is disruption of the semantic network extending beyond the boundaries of the ATLs and involving specific white matter pathways.
from the Journal of Neurosurgery
New Study Results Show Statistically Significant Treatment for Tinnitus Sufferers
Results of the latest study by Neuromonics Inc. on its Neuromonics tinnitus treatment (NTT) show that treatment response occurs within two months, and improves at all time periods over the first 12 months.
from PRWeb.com
Newborn Hearing Screening Associated With Improved Developmental Outcomes For Children With Impaired Hearing
Children with permanent hearing impairment who received hearing screening as newborns had better general and language developmental outcomes and quality of life at ages 3 to 5 years compared to newborns who received hearing screening through behavioral testing, according to a study in the October 20 issue of JAMA.
Research looks at stuttering differences in boys, girls
A Michigan State University researcher is hopeful that a recent National Institutes of Health grant she received will result in better treatment options and, ultimately, better lives for children who stutter.
from EurekAlert.org
Gender, Attention-Deficit/Hyperactivity Disorder, and Reading Disability in a Population-Based Birth Cohort
The risk for RD is significantly greater among children with ADHD compared with those without ADHD. Among children with ADHD, the risk for RD is the same for boys and girls. However, among children without ADHD, boys are more at risk for RD than girls. Among girls, the magnitude of increased risk for RD associated with ADHD is nearly twice that among boys, because girls without ADHD are less likely to have RD than boys without ADHD.
from <a href="http://pediatrics.aappublications.org/cgi/content/abstract/126/4/e788?rss=1
Hemizygous Deletions on Chromosome 1p21.3 Involving the DPYD Gene in Individuals with Autism Spectrum Disorder
We describe the identification and clinical presentation of four individuals from three unrelated families with hemizygous deletions involving the DPYD gene at chromosome 1p21.3. DPYD encodes dihydropyrimidine dehydrogenase, which is the initial and rate-limiting enzyme in the catabolism of pyrimidine bases. All four individuals described met diagnostic criteria for autism spectrum disorder with severe speech delay. Patient 1′s deletion was originally reported by Marshall et al. (2008), and more detailed clinical information is provided. Subsequently, this male individual was found to have a missense mutation in the X-linked PTCHD1 autism susceptibility gene, which may also contribute to the phenotype. Patients 2 and 3 are siblings with a novel deletion encompassing the DPYD gene. In their mother, the genomic region deleted from chromosome 1p21.3 was inserted into chromosome 10. A fourth proband had a novel 10 kb intragenic deletion of exon 6 of the DPYD gene detected on a higher resolution microarray. Our study suggests that hemizygous deletions involving the DPYD locus present with variable phenotypes which can include speech delay and autistic features, and may also be influenced by additional mutations in other genes, issues which need to be considered in genetic counseling.
from Clinical Genetics
Early Evaluation Could help Children With Hearing Loss Due To Meningitis
Since the PCV7 vaccine became widely used in the U.S in 2001, we’ve seen fewer cases of meningitis and other related diseases. However, pneumococcal meningitis continues to happen even in healthy children who receive the recommended vaccination series in early childhood. Now, researchers both of Children’s Memorial Hospital and Feinberg School of Medicine say that early evaluation and simultaneous cochlear implants in both ears may be a successful treatment strategy.
from Ivanhoe.com
Fish Oil Capsules During Pregnancy, No Effect On Baby’s Intelligence Or Post-natal Depression Risk
Pregnant women who take DHA fish oil capsules during pregnancy do not reduce their risk of developing post-natal depression, nor do the supplements have any effect on the baby’s cognitive and language development during early childhood, researchers from the Women’s and Children’s Health Research Institute, Adelaide, Australia, reported in an article published in the medical journal JAMA (Journal of the American Medical Association).
Screening babies for hearing loss can improve life if deaf
Screening newborns for hearing loss — which allows for early diagnosis and therapy — can significantly improve the lives of deaf and hearing-impaired children, who in the past often weren’t diagnosed until age 2 or 3, a new study shows.
from USA Today
