Archives of neurology
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Archives of neurology · Oct 2012
ReviewDementia resulting from traumatic brain injury: what is the pathology?
Traumatic brain injury (TBI) is among the earliest illnesses described in human history and remains a major source of morbidity and mortality in the modern era. It is estimated that 2% of the US population lives with long-term disabilities due to a prior TBI, and incidence and prevalence rates are even higher in developing countries. One of the most feared long-term consequences of TBIs is dementia, as multiple epidemiologic studies show that experiencing a TBI in early or midlife is associated with an increased risk of dementia in late life. ⋯ It is presently unknown whether dementia in TBI survivors is pathophysiologically similar to Alzheimer disease, CTE, or some other entity. Such information is critical for developing preventive and treatment strategies for a common cause of acquired dementia. Herein, we will review the epidemiologic data linking TBI and dementia, existing clinical and pathologic data, and will identify areas where future research is needed.
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Archives of neurology · Sep 2012
ReviewLink between pain and olfaction in an inherited sodium channelopathy.
In a major breakthrough in our understanding of human olfaction, a recent study showed that loss-of-function mutations in the voltage-gated sodium channel Nav1.7, encoded by the gene SCN9A, cause a loss of the sense of smell (congenital general anosmia) in mice and humans. These findings are of special clinical relevance because Nav1.7 was previously known for its essential role in the perception of pain; therefore, this channel is being explored as a promising target in the search for novel analgesics. This advance offers a functional understanding of a monogenic human disorder that is characterized by a loss of 2 major senses-nociception and smell-thus providing an unexpected mechanistic link between these 2 sensory modalities.
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Archives of neurology · May 2012
ReviewContributions of the Framingham Heart Study to stroke and dementia epidemiologic research at 60 years.
The Framingham Heart Study, the longest-running prospective epidemiologic study in history, was initiated in 1948 in response to the rising toll of coronary heart disease and hypertension. During the ensuing decades, the study of other diseases, notably stroke and dementia, was added. In 1971, 5124 offspring of the original cohort of 5209 men and women were added, and a third generation of 4095 men and women were added in 2002. ⋯ The tempo of decline has been documented by serial quantitative measures of brain structure on magnetic resonance imaging and cognitive performance by neuropsychological testing. Clinical correlation with systematic neuropathological examinations of more than 150 brains has provided important confirmation of cerebrovascular and brain tissue indices of disease. Identification of persons at heightened risk for stroke, mild cognitive impairment, Alzheimer disease, and cognitive decline years prior to disease onset may facilitate delay in disease onset and prevention.
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Archives of neurology · Mar 2012
ReviewClinical significance of rare copy number variations in epilepsy: a case-control survey using microarray-based comparative genomic hybridization.
To perform an extensive search for genomic rearrangements by microarray-based comparative genomic hybridization in patients with epilepsy. ⋯ Patients with epilepsy show a significantly increased burden of large, rare, gene-rich CNVs, particularly when associated with mental retardation and neuropsychiatric features. The limited overlap between CNVs observed in the epilepsy group and those observed in the group with mental retardation only as well as the involvement of specific (ion channel) genes indicate a specific association between the identified CNVs and epilepsy. Screening for CNVs should be performed for diagnostic purposes preferentially in patients with epilepsy and mental retardation or neuropsychiatric features.
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Archives of neurology · Mar 2012
ReviewThe evolution of academic neurology: new information will bring new meaning.
We are on the cusp of what promises to be an era of unprecedented progress in neurology. Even with current fiscal constraints and serious concerns about how health care will be organized and financed, in the next 2 decades progress in neurology and neurological science will create important new insights into understanding the brain as we decipher its disorders and discover and apply effective treatments.