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woensdag 19 juli 2017

The Lancet: [Articles] Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncon...

[Articles] Intracerebral gene therapy in children with mucopolysaccharidosis type IIIB syndrome: an uncontrolled phase 1/2 clinical trial
Intracerebral rAVV2/5 was well tolerated and induced sustained enzyme production in the brain. The initial specific anti-NAGLU immune response that later subsided suggested acquired immunological tolerance. The best results being obtained in the youngest patient implies a potential window of opportunity. Longer follow-up is needed to further assess safety outcomes and persistence of improved cognitive development.
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[Comment] Intracerebral gene therapy for mucopolysaccharidosis type IIIB syndrome
The devastating paediatric-onset lysosomal storage disorder mucopolysaccharidosis type III syndrome (also known as Sanfilippo syndrome), has been viewed as untreatable. Rapidly progressing neurological impairments lead to death, typically in the second decade of life. In The Lancet Neurology, Marc Tardieu and colleagues1 report the outcomes of a phase 1/2 clinical trial of intracerebral gene therapy with a recombinant adenoassociated viral vector serotype 2/5 encoding human α-N-acetylglucosaminidase (NAGLU) in four young children (age 20–53 months) with mucopolysaccharidosis type IIIB syndrome.
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[Corrections] Corrections
Byrne LM, Rodrigues FB, Blennow K, et al. Neurofilament light protein in blood as a potential biomarker of neurodegeneration in Huntington's disease: a retrospective cohort analysis. Lancet Neurol 2017; 16: 601–09—In figure 5C, the legend for the x-axis should have been "NfL concentration in plasma (pg/mL)" These corrections have been made to the online version as of July 14, 2017.
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[Review] Detection, risk factors, and functional consequences of cerebral microinfarcts
Cerebral microinfarcts are small lesions that are presumed to be ischaemic. Despite the small size of these lesions, affected individuals can have hundreds to thousands of cerebral microinfarcts, which cause measurable disruption to structural brain connections, and are associated with dementia that is independent of Alzheimer's disease pathology or larger infarcts (ie, lacunar infarcts, and large cortical and non-lacunar subcortical infarcts). Substantial progress has been made with regard to understanding risk factors and functional consequences of cerebral microinfarcts, partly driven by new in-vivo detection methods and the development of animal models that closely mimic multiple aspects of cerebral microinfarcts in human beings.
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[In Context] Moving in the right direction?
"We should consider every day lost on which we have not danced at least once", Friedrich Nietzsche wrote in his philosophical novel Thus Spoke Zarathustra. Sean Cross, Clinical Director of King's Health Partners Mind and Body Programme, South London and Maudsley National Health Service (NHS) Foundation Trusts (SLaM, London, UK), has this quote on his Facebook profile. Cross was one of the speakers at the Moving Bodies, Moving Minds event organised by Performing Medicine in London, UK. Under the banner The Art of Healthcare, Performing Medicine is an award-winning programme created by theatre company Clod Ensemble.
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