Affordable Access

Publisher Website

Mapping the onset and progression of atrophy in familial frontotemporal lobar degeneration

Journal of Neurology Neurosurgery & Psychiatry
Publication Date
DOI: 10.1136/jnnp.2003.032201
  • Paper
  • Law
  • Medicine
  • Psychology


Background: Frontotemporal lobar degeneration (FTLD) may be inherited as an autosomal dominant disease. Studying patients "at risk" for developing FTLD can provide insights into the earliest onset and evolution of the disease. Method: We carried out approximately annual clinical, MRI, and neuropsychological assessments on an asymptomatic 51 year old "at risk" family member from a family with FTLD associated with ubiquitin-positive and tau-negative inclusion bodies. We used non-linear (fluid) registration of serial MRI to determine areas undergoing significant regional atrophy at different stages of the disease. Results: Over the first 26 months of the study, the patient remained asymptomatic, but subsequently developed progressive speech production difficulties, and latterly severe orofacial dyspraxia, dyscalculia, frontal executive impairment, and limb dyspraxia. Regional atrophy was present prior to the onset of symptoms, and was initially centred on the left dorsolateral prefrontal cortex and the left middle frontal gyrus. Latterly, there was increasing asymmetric left frontal and parietal atrophy. Imaging revealed excess and increasing global atrophy throughout the study. Neuropsychological evaluation revealed mild intellectual impairment prior to the onset of these clinical symptoms; frontal executive and left parietal impairment subsequently emerged, culminating in widespread cognitive impairment. Fluid registered MRI allowed the emerging atrophy patterns to be delineated. Conclusion: We have demonstrated the onset and progressive pattern of in vivo atrophy in familial FTLD using fluid registered MRI and correlated this with the clinical features. Fluid registered MRI may be a useful technique in assessing patterns of focal atrophy in vivo and demonstrating the progression of degenerative diseases.

There are no comments yet on this publication. Be the first to share your thoughts.


Seen <100 times

More articles like this

Mapping the onset and progression of atrophy in fa...

on Journal of Neurology Neurosurg... February 2005

Mapping the progression of progranulin-associated...

on Nature clinical practice. Neur... August 2008

Frontotemporal lobar degeneration without lobar at...

on Archives of Neurology November 2006

[An autopsied case of senile onset frontotemporal...

on Rinshò„ shinkeigaku = Clinical... June 2011
More articles like this..