Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21–22
Matt Baker BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorJohn B. J. Kwok PhD
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorRichard Crook BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorMatthew Farrer PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorHenry Houlden MD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorAdrian Isaacs
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorSarah Lincoln BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorLuisa Onstead BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorJohn Hardy PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorLeonie Wittenberg BSc
Department of CRC, Royal Brisbane Hospital Research Foundation, Brisbrane
Search for more papers by this authorPeter Dodd PhD
Department of CRC, Royal Brisbane Hospital Research Foundation, Brisbrane
Search for more papers by this authorSonja Webb BSc
Human Genetics Laboratory, Queensland Institute of Medical Research, Herston, Woolloongaba, Australia
Search for more papers by this authorNick Hayward PhD
Human Genetics Laboratory, Queensland Institute of Medical Research, Herston, Woolloongaba, Australia
Search for more papers by this authorTony Tannenberg MB, BS, FRCPA
Department of Anatomical Pathology, Mater Misericordiae Hospital, Brisbane
Search for more papers by this authorAthena Andreadis PhD
Department of Biomedical Sciences, E. K. Shriver Center, Waltham, and Departments of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Search for more papers by this authorMarianne Hallupp BSc
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorPeter Schofield PhD
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorFrances Dark MD
Department of Psychiatry, Princess Alexandra Hospital, Woolloongaba, Australia
Search for more papers by this authorCorresponding Author
Dr. Michael Hutton PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224Search for more papers by this authorMatt Baker BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorJohn B. J. Kwok PhD
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorRichard Crook BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorMatthew Farrer PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorHenry Houlden MD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorAdrian Isaacs
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorSarah Lincoln BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorLuisa Onstead BSc
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorJohn Hardy PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Search for more papers by this authorLeonie Wittenberg BSc
Department of CRC, Royal Brisbane Hospital Research Foundation, Brisbrane
Search for more papers by this authorPeter Dodd PhD
Department of CRC, Royal Brisbane Hospital Research Foundation, Brisbrane
Search for more papers by this authorSonja Webb BSc
Human Genetics Laboratory, Queensland Institute of Medical Research, Herston, Woolloongaba, Australia
Search for more papers by this authorNick Hayward PhD
Human Genetics Laboratory, Queensland Institute of Medical Research, Herston, Woolloongaba, Australia
Search for more papers by this authorTony Tannenberg MB, BS, FRCPA
Department of Anatomical Pathology, Mater Misericordiae Hospital, Brisbane
Search for more papers by this authorAthena Andreadis PhD
Department of Biomedical Sciences, E. K. Shriver Center, Waltham, and Departments of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, MA
Search for more papers by this authorMarianne Hallupp BSc
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorPeter Schofield PhD
Department of Garvan, Institute of Medical Research, Sydney
Search for more papers by this authorFrances Dark MD
Department of Psychiatry, Princess Alexandra Hospital, Woolloongaba, Australia
Search for more papers by this authorCorresponding Author
Dr. Michael Hutton PhD
Department of Mayo Clinic Jacksonville, Jacksonville
Birdsall Building, Mayo Clinic Jacksonville, 4500 San Pablo Road, Jacksonville, FL 32224Search for more papers by this authorAbstract
An Australian family with autosomal dominant presenile nonspecific dementia was recently described. The disease results in behavioral changes, usually disinhibition, followed by the onset of dementia accompanied occasionally by parkinsonism. Twenty-eigth affected individuals were identified with an age of onset of 39 to 66 years (mean, 53 · 8.9 years). We mapped the disease locus to an approximately 26-cM region of chromosome 17q21–22 with a maximum two-point LOD score of 2.87. Affected individuals share a common haplotype between markers D17S783 and D17S808. This region of chromosome 17 contains the loci for several neurodegenerative diseases that lack distinctive pathological features, suggesting that these dementias, collectively referred to as frontotemporal dementia with parkinsonism linked to chromosome 17 (FTDP-17), are caused by mutations in the same gene. The entire coding region of five genes, mapped to the FTDP-17 candidate region, were also sequenced. This analysis included the microtubule-associated protein tau that is the major component of the paired helical filaments observed in Alzheimer's disease. No pathogenic mutations were identified in either the tau gene or in any of the other genes analyzed.
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