Skip to main content

Advertisement

SpringerLink
Log in

Familial British dementia: a clinical and multi-modal imaging case study

  • Letter to the Editors
  • Published:
Journal of Neurology Aims and scope Submit manuscript

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Price excludes VAT (USA)
Tax calculation will be finalised during checkout.

Instant access to the full article PDF.

Institutional subscriptions

Fig. 1

References

  1. Freeborough PA, Fox NC (1998) Modeling brain deformations in Alzheimer disease by fluid registration of serial 3D MR images. JCAT 22(5):838–843

    CAS  Google Scholar 

  2. Freeborough PA, Fox NC (1997) The boundary shift integral: an accurate and robust measure of cerebral volume changes from registered repeat MRI. IEEE Trans Med Imaging 16(5):623–629

    Article  CAS  Google Scholar 

  3. Mead S, James-Galton M, Revesz T et al (2000) Familial British dementia with amyloid angiopathy: early clinical, neuropsychological and imaging findings. Brain 123(5):975–991

    Article  Google Scholar 

  4. Plant GT, Révész T, Barnard RO et al (1990) Familial cerebral amyloid angiopathy with nonneuritic amyloid plaque formation. Brain 113(3):721–747

    Article  Google Scholar 

  5. Vidal R, Frangione B, Rostagno A et al (1999) A stop-codon mutation in the BRI gene associated with familial British dementia. Nature 399(6738):776–781

    Article  CAS  Google Scholar 

  6. Ghiso J, Vidal R, Rostagno A et al (2000) Amyloidogenesis in familial British dementia is associated with a genetic defect on chromosome 13. Ann N Y Acad Sci 920:84–92

    Article  CAS  Google Scholar 

  7. Del Campo M, Teunissen CE (2014) Role of BRI2 in dementia. J Alzheimers Dis 40(3):481–494

    Article  Google Scholar 

  8. Revesz T, Ghiso J, Lashley T et al (2003) Cerebral amyloid angiopathies: a pathologic, biochemical, and genetic view. J Neuropathol Exp Neurol 62(9):885–898

    Article  CAS  Google Scholar 

  9. Mehndiratta P, Manjila S, Ostergard T et al (2012) Cerebral amyloid angiopathy-associated intracerebral hemorrhage: pathology and management. Neurosurg Focus 32(4):E7

    Article  Google Scholar 

  10. Worster-Drought C, Greenfield JG, McMenemey WH (1940) A form of familial presenile dementia with spastic paralysis: including the pathological examination of a case. Brain 63(3):237–254

    Article  Google Scholar 

  11. Jokinen H, Ryberg C, Kalska H et al (2007) Corpus callosum atrophy is associated with mental slowing and executive deficits in patients with age-related white matter hyperintensities: the LADIS Study. J Neurol Neurosurg Psychiatry 78:491–496

    Article  Google Scholar 

  12. Tuladhar AM, Snaphaan L, Shumskaya E et al (2013) Default mode network connectivity in stroke patients. PLoS ONE 8(6):e66556

    Article  CAS  Google Scholar 

  13. Zhang J, Zhang Y, Xing S et al (2012) Secondary neurodegeneration in remote regions after focal cerebral infarction: a new target for stroke management? Stroke 43(6):1700–1705

    Article  Google Scholar 

  14. Schaapsmeerders P, van Uden IW, Tuladhar AM et al (2015) Ipsilateral hippocampal atrophy is associated with long-term memory dysfunction after ischemic stroke in young adults. Hum Brain Mapp 36(7):2432–2442

    Article  Google Scholar 

  15. Fotiadis P, van Rooden S, van der Grond J et al (2016) Cortical atrophy in patients with cerebral amyloid angiopathy: a case-control study. Lancet Neurol 15(8):811–819

    Article  Google Scholar 

  16. Doden T, Sato H, Sasahara E et al (2016) Clinico-radiological characteristics and pathological diagnosis of cerebral amyloid angiopathy-related intracerebral haemorrhage. J Stroke Cerebrovasc Dis 25(7):1736–1745

    Article  Google Scholar 

  17. Charidimou A, Peeters A, Fox Z et al (2012) Spectrum of transient focal neurological episodes in cerebral amyloid angiopathy: multicentre magnetic resonance imaging cohort study and meta-analysis. Stroke 43(9):2324–2330

    Article  Google Scholar 

  18. Paterson RW, Uchino K, Emsley HC et al (2013) Recurrent stereotyped episodes in cerebral amyloid angiopathy: response to migraine prophylaxis in two patients. Cerebrovasc Dis Extra 3(1):81–84

    Article  CAS  Google Scholar 

  19. Roch JA, Nighoghossian N, Hermier M et al (2005) Transient neurologic symptoms related to cerebral amyloid angiopathy: usefulness of T2*-weighted imaging. Cerebrovasc Dis 20:412–414

    Article  CAS  Google Scholar 

  20. Villemagne VL, Pike K, Pejoska S et al (2010) 11C-PiB PET ABri imaging in worster-drought syndrome (familial british dementia): a case report. J Alzheimers Dis 19(2):423–428

    Article  CAS  Google Scholar 

  21. Holton JL, Ghiso J, Lashley T et al (2001) Regional distribution of amyloid-Bri deposition and its association with neurofibrillary degeneration in familial British dementia. Am J Pathol 158(2):515–526

    Article  CAS  Google Scholar 

Download references

Acknowledgements

We thank Daniel Jimenez for his assistance with video recording. We are grateful to AVID Radiopharmaceuticals (a wholly owned subsidiary of Eli Lilly) which kindly provided the tracers 18F-flobetapir and 18F-flortaucipir for this study. JMS acknowledges the support of the National Institute for Health Research University College London Hospitals Biomedical Research Centre, Alzheimer’s Research UK, Medical Research Council, UK Dementia Research Institute and Alzheimer’s Association.

Funding

No funding to report.

Author information

Authors and Affiliations

  1. Dementia Research Centre, UCL Institute of Neurology, Queen Square, London, WC1N 3BG, UK

    Matthew J. Harris, Christopher A. Lane, William Coath, Ian B. Malone, David M. Cash, Josephine Barnes & Jonathan M. Schott

  2. Dementia Research Institute, UCL Institute of Neurology, London, UK

    David M. Cash & Jonathan M. Schott

  3. Queen Square Institute of Neurology and Centre for Medical Image Computing (CMIC), UCL Institute of Neurology, London, UK

    Frederik Barkhof

  4. Department of Radiology and Nuclear Medicine, Amsterdam University Medical Centers, Amsterdam, Netherlands

    Frederik Barkhof

Authors
  1. Matthew J. Harris
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Christopher A. Lane
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. William Coath
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Ian B. Malone
    View author publications

    You can also search for this author in PubMed Google Scholar

  5. David M. Cash
    View author publications

    You can also search for this author in PubMed Google Scholar

  6. Josephine Barnes
    View author publications

    You can also search for this author in PubMed Google Scholar

  7. Frederik Barkhof
    View author publications

    You can also search for this author in PubMed Google Scholar

  8. Jonathan M. Schott
    View author publications

    You can also search for this author in PubMed Google Scholar

Corresponding author

Correspondence to Jonathan M. Schott.

Ethics declarations

Conflicts of interest

CL is now a full-time employee of Roche Products Lts, and a shareholder in F.Hoffmann-La Roche. There are no other relevant financial or non-financial interests to disclose.

Consent to publish

The participant has consented to the submission of the case report to the journal and for publication of the supplementary videos which identify the patient.

Ethical Statements

Written informed consent was obtained from the participant to publish the case report and the supplementary videos which identify the participant.

Supplementary Information

Below is the link to the electronic supplementary material.

Supplementary Video 1 (MP4 57015 KB) Patient description of symptoms of acute memory impairment and amyloid spells

Supplementary Video 2 (MP4 33019 KB) Examination of gait demonstrates residual left hemiplegia and emergent spasticity in the right leg

Supplementary file3 (DOCX 13 KB)

Rights and permissions

Reprints and permissions

About this article

Check for updates. Verify currency and authenticity via CrossMark

Cite this article

Harris, M.J., Lane, C.A., Coath, W. et al. Familial British dementia: a clinical and multi-modal imaging case study. J Neurol 269, 3926–3930 (2022). https://doi.org/10.1007/s00415-022-11036-8

Download citation

  • Received:

  • Revised:

  • Accepted:

  • Published:

  • Issue Date:

  • DOI: https://doi.org/10.1007/s00415-022-11036-8

Search

Navigation