Journal of Alzheimer’s Disease 19 (2010) 423–428 423 DOI 10.3233/JAD-2010-1241 IOS Press Short Communication 11 C-PiB PET A Bri Imaging in Worster-Drought Syndrome (Familial British Dementia): A Case Report Victor L. Villemagne 1,b,∗ , Kerryn Pike a,b , Svetlana Pejoska a , Alison Boyd c , Margaret Power b , Gareth Jones a , Colin L. Masters b and Christopher C. Rowe a a Department of Nuclear Medicine and Centre for PET, Austin Health, Melbourne, VIC, Australia b Mental Health Research Institute, University of Melbourne, Melbourne, VIC, Australia c Australian National CJD Registry, Department of Pathology, the University of Melbourne, Parkville, VIC, Australia Accepted 16 August 2009 Abstract. Brain amyloid imaging is becoming an essential tool for the pre-mortem evaluation of Alzheimer’s disease (AD). This study explores the pattern of 11 C-PiB retention in a subject with Worster-Drought syndrome (WDS). A 55 year-old male carrier of the WDS gene mutation with mild signs of ataxia and subtle cognitive impairment underwent MRI and 11 C-PiB-PET studies. Brain PiB regional distribution was compared to those from cohorts of healthy controls and AD patients. While no significant cortical 11 C-PiB retention was present, a high degree of cerebellar 11 C-PiB retention was observed in a genetically confirmed carrier of the WDS gene. We speculate that the sparsity of ABri plaques in the neocortex together with its high deposition in the cerebellum, might explain the observed pattern of 11 C-PiB retention. Keywords: Amyloid, brain imaging, Familial British Dementia, PiB, positron emission tomography, Worster-Drought syndrome INTRODUCTION Worster-Drought syndrome (WDS, also known as Familial British dementia) is a rare, early-onset auto- somal dominant neurodegenerative disorder, first de- scribed by Worster-Drought in 1933 [1]. With onset usually in the sixth decade, WDS clin- ically presents as a progressive dementia along with neurological features such as progressive spastic tetra- paresis and cerebellar ataxia [2–4]. While WDS shares ∗ Corresponding author: Victor L. Villemagne, Department of Nu- clear Medicine, Centre for PET, Austin Health, 145 Studley Road, Heidelberg, VIC 3084, Australia. Tel.: +61 3 9496 3321; Fax: +61 3 9458 5023; E-mail: villemagne@petnm.unimelb.edu.au. neuropathological features with Alzheimer’s disease (AD), including amyloid plaque deposits, neurofibril- lary tangles (NFTs), and neuronal loss, the disease is neuropathologically characterized by deposition of a unique amyloid-forming protein, A Bri [3,5,6]. Some reports also mention TDP-43 deposits in WDS [7]. The diagnosis of WDS is usually made in patients younger than 60 years, with a positive family history of the disease, and symptoms or signs of spastic para- paresis or ataxia, memory impairment on neuropsycho- logical testing, and deep white-matter high signal on T2-weighted MRI of an extent or location that would not be expected in normal individuals [2]. Hippocampal neurofibrillar degeneration and wides- pread parenchymal and vascular amyloid deposits are the main neuropathological lesions in WDS [2, ISSN 1387-2877/10/$27.50  2010 – IOS Press and the authors. All rights reserved