Article Text

PDF
Abstracts from the Association of British Neurologists Annual Meeting 2011
173 Footfalls echo in the memory
  1. W O Tobin,
  2. M Farrell,
  3. C McGuigan
  1. Department of Neurology, St. Vincent's University Hospital, Dublin, Ireland
  2. Department of Neuropathology, Beaumont Hospital, Dublin, Ireland

Abstract

A 58-year-old woman presented with a 3.5-year history of falls, unsteadiness and a 6-month history of memory loss. Examination revealed a spastic tetraparesis and multi-domain cognitive dysfunction. MRI brain demonstrated periventricular and deep white matter hyperintensities (Abstract 173 figure 1). The cervical spinal cord was normal. Her husband died 1 year previously following a 3-year history of memory loss and limb spasticity. Subsequent questioning revealed husband and wife to be consanguineous. Genetic testing identified husband and wife as being heterozygous for the Glu280Gly (g.50024A→G) mutation in the Presenilin-1 gene on chromosome 14. Neuropathologic examination of the husband's brain showed neuritic and diffuse “cotton-wool” plaques together with meningovascular and parenchymal amyloid angiopathy involving cerebral and cerebellar cortex (CERAD D; BRAAK VI) and severe periventricular leukoaraiosis (Abstract 173 figure 2). Family history through seven generations revealed individuals in every generation to have a phenotype similar to the index case. The typical clinical and pathological features of the Presenilin 1 Glu280Gly mutation may mimic more common neurodegenerative or neuroinflammatory diseases. In patients presenting with limb spasticity and cognitive impairment Presenilin 1 mutations should be considered in the differential diagnosis.

Abstract 173 Figure 1

Axial FLAIR images of brain of the index case demonstrating high signal lesions in the periventricular and deep white matter.

Abstract 173 Figure 2

β A4 positive immunostained cotton-wool plaques and meningeal vessels in cerebellar cortex [X40]

Statistics from Altmetric.com

Footnotes

  • Email: oliver.tobin{at}yahoo.co.uk

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.