Seminars in neurology
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This review broadly covers the commoner genetic ataxias, concentrating on their clinical features. Over the last two decades there has been a potentially bewildering profusion of newly described genetic ataxias. However, at least half of dominant ataxias (SCAs) are caused by (CAG)n repeat expansions resulting in expanded polyglutamine tracts (SCAs 1, 2, 3, 6, 7, 17, and DRPLA), although of the remainder only SCAs 8, 10, 12, 14, 15/16, and 31 are frequent enough that the described phenotype is probably representative. ⋯ Although rare, several other recessive disorders such as AVED are potentially treatable and should not be missed. Another group of genetic ataxias are the dominant episodic ataxias, of which EA1 and EA2 are the most important. Lastly, the neurologist's role in ongoing management, rather than just diagnosis, is addressed.
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Dementia with Lewy bodies (DLB) is the second most common diagnosis of dementia after Alzheimer disease (AD). The essential pathologic feature is the Lewy body, a neuronal inclusion containing α-synuclein, found in brainstem nuclei and the neocortex. Clinical features include early fluctuations in attention, hallucinations, and parkinsonism, with progression to a combined cortical and subcortical dementia. ⋯ Treatment is aimed at symptom management. Cholinesterase inhibitors can be beneficial for behavioral and cognitive issues, whereas dopaminergic agents may help motor symptoms. Survival is equivalent to AD when measured from symptom onset, though diagnosis in DLB may be delayed.
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In this review, the authors outline a clinical approach to frontotemporal lobar degeneration (FTLD), a term coined to describe a pathology associated with atrophy of the frontal and temporal lobes commonly seen with abnormal protein aggregates. It accounts for ∼10% of pathologically confirmed dementias. The three clinical syndromes associated with FTLD are jointly classified as frontotemporal dementia (FTD) and include behavioral variant frontotemporal dementia (bvFTD), nonfluent-agrammatic primary progressive aphasia (nfvPPA), and semantic variant PPA (svPPA; left: l-svPPA and right: r-svPPA). ⋯ Other common genetic mutations in FTLD involve GRN and MAPT. Behavioral symptoms are best managed by selective serotonin reuptake inhibitors, while atypical antipsychotics should be used with caution given side effects. Promising etiologic treatments include anti-tau antibodies, antisense oligonucleotides, and progranulin enhancers.
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Seminars in neurology · Nov 2013
Review Case ReportsTreatment of cerebral aneurysms-surgical clipping or endovascular coiling: the guiding principles.
Cerebral aneurysms represent common intracranial vascular lesions encountered in neurosurgical practice. The clinical presentation is varied, ranging from asymptomatic lesions to those presenting with catastrophic intracranial hemorrhage. ⋯ In this article, we review each of these factors and appraise the available scientific evidence in an effort to facilitate decision making in the treatment of cerebral aneurysms. The treatment of intracranial aneurysms is best performed at high volume centers that utilize a multidisciplinary, team-based approach.
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Intraarterial therapy for acute ischemic stroke (AIS) was originally described five decades ago. Since then, the endovascular management of AIS endovascular therapy has advanced swiftly, and a promising body of evidence informing patient selection and interventional techniques has accrued. The authors discuss the evolution of endovascular therapy for AIS, including a review of recently published landmark clinical trials.