FTLD-TDP with motor neuron disease, visuospatial impairment and a progressive supranuclear palsy-like syndrome: broadening the clinical phenotype of TDP-43 proteinopathies. A report of three cases

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作者
Robert Rusina
Gabor G Kovacs
Jindřich Fiala
Jakub Hort
Petr Ridzoň
Iva Holmerová
Thomas Ströbel
Radoslav Matěj
机构
[1] Thomayer Teaching Hospital and Institute for Postgraduate Education in Medicine,Department of Neurology
[2] Medical University of Vienna,Institute of Neurology
[3] Charles University,Department of Neurology
[4] 2nd Medical Faculty and Motol Teaching Hospital,Centre of Gerontology and Faculty of Humanity Studies
[5] International Clinical Research Center,Department of Pathology and Molecular Medicine
[6] Charles University in Prague,Department of Neurology and Centre of Clinical Neuroscience, First Faculty of Medicine
[7] Thomayer Teaching Hospital,undefined
[8] Charles University in Prague,undefined
来源
BMC Neurology | / 11卷
关键词
Multiple System Atrophy; Progressive Supranuclear Palsy; Motor Neuron Disease; Frontotemporal Dementia; Progressive Supranuclear Palsy;
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[1]  
Neumann M(2006)Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis Science 314 130-133
[2]  
Sampathu DM(2009)Amyotrophic lateral sclerosis, frontotemporal dementia and beyond: the TDP-43 diseases J Neurol 256 1205-1214
[3]  
Kwong LK(2007)Amyotrophic lateral sclerosis with dementia showing clinical parkinsonism and severe degeneration of the substantia nigra: report of an autopsy case Neuropathology 27 295-299
[4]  
Truax AC(2008)Severe subcortical TDP-43 pathology in sporadic frontotemporal lobar degeneration with motor neuron disease Acta Neuropathol 115 123-131
[5]  
Micsenyi MC(2006)Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21 Nature 442 920-924
[6]  
Chou TT(2007)Clinical, genetic, and pathologic characteristics of patients with frontotemporal dementia and progranulin mutations Arch Neurol 64 1148-1153
[7]  
Bruce J(2010)Brain progranulin expression in GRN-associated frontotemporal lobar degeneration Acta Neuropathol 119 111-122
[8]  
Schuck T(2003)Movement Disorders Society Scientific Issues Committee report: SIC Task Force appraisal of clinical diagnostic criteria for Parkinsonian disorders Mov Disord 18 467-486
[9]  
Grossman M(2004)Frontotemporal lobar degeneration with ubiquitin-only-immunoreactive neuronal changes: broadening the clinical picture to include progressive supranuclear palsy Brain 127 2441-2451
[10]  
Clark CM(2009)Amyotrophic lateral sclerosis-plus syndrome with TAR DNA-binding protein-43 pathology Arch Neurol 66 121-124