Robin Highley

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Mutation in the CHMP2B gene has been implicated in frontotemporal dementia. The authors screened CHMP2B in patients with ALS and several cohorts of control samples. They identified mutations (Q206H; I29V) in two patients with non-SOD1 ALS. Neuropathology of the Q206H case showed lower motor neuron predominant disease with ubiquitylated inclusions in motor(More)
The discovery that a hexanucleotide repeat expansion in C9orf72 is the most numerous genetic variant of both amyotrophic lateral sclerosis and frontotemporal dementia has opened a rapidly growing field, which may provide long hoped for advances in the understanding and treatment of these devastating diseases. In this review we describe the various(More)
described in experimental studies of subarachnoid epinephrine injection in dogs [12], have only since been reported twice. One case report describes a secretory meningioma with rosette formation associated with Moyamoya disease [10]. This feature was also briefly mentioned and illustrated in the 1982 monograph by Dr. John Kepes [5]. However, to date, no(More)
We describe the case of a 52 year old male presenting with subacute headache. Cranial imaging suggested haemorrhage into a parietal, partially intraventricular, space occupying lesion. The radiology was interpreted to be most consistent with a glioblastoma. The lesion was near totally resected. The histopathology was a WHO grade 1 schwannoma.
X-rays taken for ankle trauma contribute significantly to the cost of health care in this country. In an attempt to find clinical correlates of ankle fracture 36 detailed historical and physical examination variables were collected from 587 consecutive patients with ankle trauma, and ankle x-rays were taken of all patients. The association of each variable(More)
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