LETTER TO THE EDITOR Mutations in progranulin explain atypical phenotypes with variants in MAPT

نویسندگان

  • Stuart M. Pickering-Brown
  • Matt Baker
  • Jenny Gass
  • Bradley F. Boeve
  • Clement T. Loy
  • William S. Brooks
  • Ian R. A. Mackenzie
  • Ralph N. Martins
  • John B. J. Kwok
  • Glenda M. Halliday
  • Jillian Kril
  • Peter R. Schofield
  • David M. A. Mann
  • Mike Hutton
چکیده

Division of Regenerative Medicine, University of Manchester, Manchester, UK, Clinical Neuroscience Research Group, Division of Medicine and Neuroscience, Greater Manchester Neurosciences Centre, University of Manchester, Hope Hospital, Salford, UK, Department of Neuroscience, Mayo Clinic Jacksonville, Jacksonville, FL, Department of Neurology, Mayo Clinic, Rochester, Rochester, MN, USA, Garvan Institute of Medical Research, Darlinghurst, NSW 2010 Australia, Prince of Wales Medical Research Institute, Barker Street, Randwick, Sydney 2031, Australia, The University of New South Wales, Sydney 2052, Australia, Department of Pathology and Laboratory Medicine University of British Columbia and Vancouver Coastal Health, Vancouver, British Columbia, Canada and Disciplines of Medicine and Pathology, University of Sydney, Sydney, Australia

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

منابع مشابه

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

Mutations in presenilin-1 (PSEN1) cause autosomal dominant Alzheimer's disease and mutations in MAPT cause the familial tauopathy Frontotemporal dementia linked to chromosome 17 (FTDP-17). However, there have been reports of mutations in PSEN1 and MAPT associated with cases of FTD with ubiquitin-positive tau-negative inclusion pathology. Here, we demonstrate that the MAPT variants are almost ce...

متن کامل

Progranulin gene mutations associated with frontotemporal dementia and progressive non-fluent aphasia.

Frontotemporal lobar degeneration (FTLD) refers to a focal, non-Alzheimer form of cerebral degeneration that encompasses the distinct clinical syndromes of frontotemporal dementia (FTD), progressive non-fluent aphasia (PNFA) and semantic dementia. Some patients show tau-based pathological changes and in familial cases mutations have been identified in the microtubule-associated protein tau gene...

متن کامل

Role of MAPT mutations and haplotype in frontotemporal lobar degeneration in Northern Finland

BACKGROUND Frontotemporal lobar degeneration (FTLD) consists of a clinically and neuropathologically heterogeneous group of syndromes affecting the frontal and temporal lobes of the brain. Mutations in microtubule-associated protein tau (MAPT), progranulin (PGRN) and charged multi-vesicular body protein 2B (CHMP2B) are associated with familial forms of the disease. The prevalence of these mutat...

متن کامل

ذخیره در منابع من


  با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید

برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید

ثبت نام

اگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید

عنوان ژورنال:

دوره   شماره 

صفحات  -

تاریخ انتشار 2006