Parietal lobe deficits in frontotemporal lobar degeneration caused by a mutation in the progranulin gene.

Archives of Neurology
Jonathan D RohrerMartin N Rossor

Abstract

To describe the clinical, neuropsychologic, and radiologic features of a family with a C31LfsX35 mutation in the progranulin gene CCDS11483.1). Case series. A large British kindred (DRC255) with a PGRN mutation was assessed. Affected individuals presented with a mean age of 57.8 years (range, 54-67 years) and a mean disease duration of 6.1 years (range, 2-11 years). All patients exhibited a clinical and radiologic phenotype compatible with frontotemporal lobar degeneration based on current consensus criteria. However, unlike sporadic frontotemporal lobar degeneration, parietal deficits, consisting of dyscalculia, visuoperceptual /visuospatial dysfunction, and/or limb apraxia, were a common feature, and brain imaging showed posterior extension of frontotemporal atrophy to involve the parietal lobes. Other common clinical features included language output impairment with either dynamic aphasia or nonfluent aphasia and a behavioral syndrome dominated by apathy. We suggest that parietal deficits may be a prominent feature of PGRN mutations and that these deficits may be caused by disruption of frontoparietal functional pathways.

References

Dec 1, 1976·Cortex; a Journal Devoted to the Study of the Nervous System and Behavior·H E Nelson
Dec 1, 1986·Cortex; a Journal Devoted to the Study of the Nervous System and Behavior·M Jackson, E K Warrington
Sep 1, 1980·Journal of Neurology, Neurosurgery, and Psychiatry·P McKenna, E K Warrington
Jun 20, 1998·Neurology·M StevensJ C van Swieten
Sep 26, 2001·Brain : a Journal of Neurology·S M RossoJ C van Swieten
Oct 9, 2002·Neurology·Catherine Lomen-HoerthBruce Miller
Aug 20, 2003·Neurocase·Jason D WarrenElizabeth K Warrington
Jun 5, 2004·Dementia and Geriatric Cognitive Disorders·John C van SwietenPeter Heutink
Sep 17, 2004·Journal of Neurology·Prudence M StanfordPeter R Schofield
Dec 15, 2004·Annals of Neurology·Marco CataniDominic H ffytche
May 10, 2005·Parkinsonism & Related Disorders·Yasuhiko BabaZbigniew K Wszolek
Oct 22, 2005·Lancet Neurology·David NearyDavid Mann
Dec 1, 2005·Alzheimer Disease and Associated Disorders·Adam L Boxer, Bruce L Miller
Jan 13, 2006·Brain : a Journal of Neurology·Ian R MackenzieStuart M Pickering-Brown
Feb 24, 2006·Brain : a Journal of Neurology·Julie van der ZeeBart Dermaut
Sep 5, 2006·Human Molecular Genetics·Jennifer GassRosa Rademakers
Oct 13, 2006·Brain : a Journal of Neurology·Mario MasellisEkaterina Rogaeva
Oct 31, 2006·Brain : a Journal of Neurology·Ian R A MackenzieHoward H Feldman
Jan 18, 2007·European Journal of Human Genetics : EJHG·Iraad F BronnerJohn C van Swieten

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Citations

Jul 6, 2014·Journal of the International Neuropsychological Society : JINS·Bradley J HallamIan R Mackenzie
Oct 20, 2007·Brain : a Journal of Neurology·Jonathan D RohrerJason D Warren
Jul 24, 2008·Nature Clinical Practice. Neurology·Jonathan D RohrerNick C Fox
Oct 31, 2009·Acta Neuropathologica·Maria Carmela TartagliaWilliam W Seeley
May 12, 2011·Journal of Molecular Neuroscience : MN·Jonathan D Rohrer
Sep 15, 2010·International Psychogeriatrics·Janine Diehl-SchmidThomas Jahn
Jul 17, 2009·Psychogeriatrics : the Official Journal of the Japanese Psychogeriatric Society·Osamu Yokota
Jul 21, 2012·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Petra E Cohn-HokkeJohn C van Swieten
Aug 15, 2009·NeuroImage·Jonathan D RohrerJason D Warren
Oct 1, 2014·European Journal of Nuclear Medicine and Molecular Imaging·A AshrafP Edison
Sep 23, 2010·Neurocase·Edward C LauterbachLauren L Greenway
Nov 27, 2008·Journal of the Neurological Sciences·Jonathan D RohrerJason D Warren
May 7, 2020·Frontiers in Neurology·Maï-Carmen Requena-KomuroJason D Warren
Sep 7, 2018·Frontiers in Neurology·Maxime MontembeaultRaffaella Migliaccio
Dec 1, 2020·Frontiers in Neurology·Jacky Ganguly, Mandar Jog
Aug 15, 2021·Neurotherapeutics : the Journal of the American Society for Experimental NeuroTherapeutics·Bradley T PeetRenaud La Joie

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