The thalamus in Alzheimer's and Parkinson's disease A neuropathological and neurochemical study

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Distal myopathy secondary to a mutation in myotilin

Distal myopathies are inherited primary muscle and may be caused by defects in structural components of the sarcomere. We present a family with a distal myopathy secondary to a mutation in myotilin. A 70-year-old male reported progressive difficulty walking from his early 50s when he developed a tendency for his feet to flap followed by increasing problems rising from a chair. A younger sister had identical symptoms and their father had an abnormal gait from his fifth decade. On examination, he had a lordotic gait and a distal pattern of weakness in his lower limbs. Creatine kinase was marginally raised and an MRI of his legs showed a distinctive pattern of fatty replacement of muscle. Muscle biopsy revealed non-selective fibre atrophy and numerous eosinophilic inclusions surrounded by asophilic granules. Molecular genetic analysis of titan was normal but a myotilin S60C missense mutation was found in both siblings. Myotilin is a 57 kDa Z-disc component that interacts with alpha-actinin, filamin-C, calsarcin and actin which controls sarcomere assembly. Seven mutations have been reported which give rise to two phenotypes—either LGMD1A or a distal myofibrillar myopathy. This family is only the second to be reported with this particular mutation

Spectral and non-linear analysis of thalamocortical neural mass model oscillatory dynamics

The chapter is organised in two parts: In the first part, the focus is on a combined power spectral and non-linear behavioural analysis of a neural mass model of the thalamocortical circuitry. The objective is to study the effectiveness of such ‘multi-modal’ analytical techniques in model-based studies investigating the neural correlates of abnormal brain oscillations in Alzheimer’s disease (AD). The power spectral analysis presented here is a study of the ‘slowing’ (decreasing dominant frequency of oscillation) within the alpha frequency band (8 – 13 Hz), a hallmark of Electroencephalogram (EEG) dynamics in AD. Analysis of the nonlinear dynamical behaviour focuses on the bifurcating property of the model. The results show that the alpha rhythmic content is maximal at close proximity to the bifurcation point — an observation made possible by the ‘multi-modal’ approach adopted herein. Furthermore, a slowing in alpha rhythm is observed for increasing inhibitory connectivity — a consistent feature of our research into neuropathological oscillations associated with AD. In the second part, we have presented power spectral analysis on a model that implements multiple feed-forward and feed-back connectivities in the thalamo-cortico-thalamic circuitry, and is thus more advanced in terms of biological plausibility. This study looks at the effects of synaptic connectivity variation on the power spectra within the delta (1 – 3 Hz), theta (4 – 7 Hz), alpha (8 – 13 Hz) and beta (14 – 30 Hz) bands. An overall slowing of EEG with decreasing synaptic connectivity is observed, indicated by a decrease of power within alpha and beta bands and increase in power within the theta and delta bands. Thus, the model behaviour conforms to longitudinal studies in AD indicating an overall slowing of EEG

Characteristics, management, and outcomes of patients with left‐sided infective endocarditis complicated by heart failure: a substudy of the ESC‐EORP EURO‐ENDO (European infective endocarditis) registry

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