Publications by authors named "Seamus Kearney"

Article Synopsis
  • - Cerebellar ataxia, neuropathy and vestibular areflexia syndrome (CANVAS) is a rare neurodegenerative disease linked to genetic mutations, particularly biallelic AAGGG repeat expansions in the RFC1 gene.
  • - A study analyzed whole genome sequencing data from almost 10,000 individuals and discovered three new repeat variations related to CANVAS, alongside confirming the pathogenic nature of larger AAAGG expansions.
  • - The research highlights the need for careful genetic testing in CANVAS patients, especially for those carrying specific repeat configurations, to ensure accurate diagnosis and family counseling.
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A 47-year-old man presented with a 9-year history of a hypoalert hypoactive behaviour syndrome, caused by the deep brain swelling variant of spontaneous intracranial hypotension. Along with apathy with retained cognition, he had stable ataxia, impaired upgaze and episodes of central apnoea. MRI brain showed a sagging brainstem, pointed ventricles and reduced angle between the vein of Galen and the straight sinus, but no meningeal enhancement or subdural collections.

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A woman aged 22 years presented with a 3-year history of jerks when brushing her teeth and a tremor when carrying drinks. Examination revealed a bilateral jerky tremor, stimulus-sensitive myoclonus, and difficulty with tandem gait. Thyroid and liver function test results were normal, but she had rapidly progressive renal failure.

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Objective: To describe 5 cases of Parkinson's disease lacking any detectable histopathology.

Background: The diagnosis of Parkinson's disease is supported histologically by the findings of α-synuclein immunopositive Lewy bodies and neurites and severe substantia nigra cell loss. Bradykinesia as defined by slowness of initiation of movement and a progressive reduction in speed and amplitude on finger tapping is a clinical correlate of pars compacta nigral degeneration.

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Locked in syndrome is typically associated with significant morbidity and mortality. We report a patient who had an unusually good recovery from locked in syndrome due to pontine infarction. The good recovery exhibited by our patient may have resulted from resolution of oedema at the site of infarction and brainstem plasticity being augmented by initial supportive measures in the intensive care unit and early, intensive rehabilitation.

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