Lancet neurology
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Dystonia and parkinsonism may present as part of the same genetic disorder. Identification of the genetic mutations that underlie these diseases may help to shed light on the aetiological processes involved. ⋯ We describe a mutation within the gene PRKRA that segregates with a novel, autosomal recessive, dystonia parkinsonism syndrome. These patients have progressive, generalised, early-onset dystonia with axial muscle involvement, oromandibular (sardonic smile), laryngeal dystonia and, in some cases, parkinsonian features, and do not respond to levodopa therapy.
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The decision about whether to treat an unruptured brain arteriovenous malformation (AVM) depends on a comparison of the estimated lifetime risk of intracranial haemorrhage with the risks of interventional treatment. We aimed to test whether outcome differs between adults who had interventional AVM treatment and those who did not. ⋯ Greater AVM size and interventional treatment were associated with worse short-term functional outcome for unruptured AVMs, but the longer-term effects of intervention are unclear.
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Epilepsy is a common neurological disorder that can be complicated by neurobehavioral comorbidities, which include cognitive impairment, psychiatric disorders, and social problems. Although such comorbidities are traditionally thought to arise predominantly from the effects of recurrent seizures, iatrogenic effects of medications, and adverse social reactions to epilepsy (eg, stigma), there is a growing body of evidence that other factors are involved. These influences include altered neurodevelopment of the brain, cognition, and behaviour; exacerbation of the comorbidities due to decades of medically intractable epilepsy; and possible acceleration of common age-associated changes, leading to uncertain and understudied outcome in old age. This Review summarises, from a lifespan perspective, the evidence for the neurodevelopmental origins of these comorbidities, how they develop over time, and their endpoints, with an emphasis on future clinical and research challenges.
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Amyloid-beta (Abeta) plaque formation is a hallmark of Alzheimer's disease (AD) and precedes the onset of dementia. Abeta imaging should allow earlier diagnosis, but clinical application is hindered by the short decay half-life of current Abeta-specific ligands. (18)F-BAY94-9172 is an Abeta ligand that, due to the half-life of (18)F, is suitable for clinical use. We thus studied the effectiveness of this ligand in identifying patients with AD. ⋯ (18)F-BAY94-9172 PET discriminates between AD and FTLD or healthy controls and might facilitate integration of Abeta imaging into clinical practice.