A pathogenic progranulin mutation and C9orf72 repeat expansion in a family with frontotemporal dementia.
Bottom Line: Brain imaging from available cases showed a symmetrical pattern of atrophy particularly affecting the frontal and temporal lobes.Pathologically two cases were classified as FTLD-TDP type A with TDP-43 positive inclusions, with additional p62-positive 'star-like' inclusions found in the hippocampal formation and cerebellum.However the driving force of the pathological process may be either pathogenic mutation or a combination of both converging on a singular mechanism.
Affiliation: Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.Show MeSH
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Mentions: The DRC 240 family are from the south of the UK and have an autosomal dominant history of speech, cognitive and gait impairment (Figure 1). Little is known about previous generations but case 1.2 was said to have dementia with impaired speech and gait from the age of 61, dying 2 years later whilst case 1.3 also had a young onset dementia with onset at 60 and disease duration of 4 years.
Affiliation: Queen Square Brain Bank, Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK.