10 research outputs found
The thalamus in Alzheimer's and Parkinson's disease A neuropathological and neurochemical study
SIGLEAvailable from British Library Document Supply Centre- DSC:DX184523 / BLDSC - British Library Document Supply CentreGBUnited Kingdo
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 phenotypesâeither LGMD1A or a distal myofibrillar myopathy. This family is only the second to be reported with this particular mutation
Gene structure of the human metabotropic glutamate receptor 5 and functional analysis of its multiple promoters in neuroblastoma and astroglioma cells
Pathology of early-onset Alzheimer's disease cases bearing the Thr113-114ins presenilin-1 mutation
Transection of the pituitary stalk in man: anatomical changes in the pituitary glands of 21 patients
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 âmulti-modalâ analytical techniques in model-based studies investigating
the neural correlates of abnormal brain oscillations in Alzheimerâs disease (AD).
The power spectral analysis presented here is a study of the âslowingâ (decreasing
dominant frequency of oscillation) within the alpha frequency band (8 â 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 â an observation made possible by the âmulti-modalâ approach
adopted herein. Furthermore, a slowing in alpha rhythm is observed for increasing
inhibitory connectivity â 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 â 3 Hz), theta (4 â 7 Hz),
alpha (8 â 13 Hz) and beta (14 â 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