Frontotemporal dementia with parkinsonism linked to chromosome 17 with the MAPTR406W mutation presenting with a broad distribution of abundant senile plaques

Neuropathology

Volumn 35, Issue 1, 2015, Pages 75-82

  Ishida, Chiho ^a   Kobayashi, Katsuji ^b   Kitamura, Tatsuru ^c   Ujike, Hiroshi ^d   Iwasa, Kazuo ^e   Yamada, Masahito ^e  

^a National Hospital Organization Iou National Hospital   (Japan)

^b Awazu Neuropsychiatric Sanatorium   (Japan)

^c Ishikawa Prefectural Takamatsu Hospital   (Japan)

^d Ujike Nishiguchi Clinic   (Japan)

^e KANAZAWA UNIVERSITY GRADUATE SCHOOL OF MEDICAL SCIENCE   (Japan)

Author keywords

Alzheimer disease; Frontotemporal dementia; MAPT protein; Senile plaque; Tau

Indexed keywords

AMYLOID BETA PROTEIN[1-42]; TAU PROTEIN; AMYLOID BETA PROTEIN; AMYLOID BETA-PROTEIN (1-42); MAPT PROTEIN, HUMAN; PEPTIDE FRAGMENT;

AGED; ALZHEIMER DISEASE; ANTERO MEDIAL TEMPORAL CORTEX; ARTICLE; AUTOPSY; BRAIN ATROPHY; BRAIN BLOOD FLOW; CASE REPORT; CAUSE OF DEATH; CEREBROSPINAL FLUID; CHROMOSOME 17; CHRONIC KIDNEY FAILURE; FRONTAL LOBE; FRONTOTEMPORAL DEMENTIA; GENE MUTATION; GENETIC LINKAGE; HIPPOCAMPUS; HUMAN; JAPANESE (PEOPLE); MALE; NERVE DEGENERATION; NEUROFIBRILLARY TANGLE; NEUROIMAGING; NUCLEAR MAGNETIC RESONANCE IMAGING; PARKINSONISM; PNEUMONIA; POSTERIOR CINGULATE; PRIORITY JOURNAL; PROTEIN PHOSPHORYLATION; SENILE PLAQUE; TEMPORAL CORTEX; TEMPORAL LOBE; AMYLOID PLAQUE; FATALITY; FEMALE; GENETICS; METABOLISM; MIDDLE AGED; MUTATION; PATHOLOGY;

AGED; ALZHEIMER DISEASE; AMYLOID BETA-PEPTIDES; FATAL OUTCOME; FEMALE; FRONTOTEMPORAL DEMENTIA; HUMANS; MALE; MIDDLE AGED; MUTATION; PEPTIDE FRAGMENTS; PLAQUE, AMYLOID; TAU PROTEINS;

EID: 84920970069     PISSN: 09196544     EISSN: 14401789     Source Type: Journal    
DOI: 10.1111/neup.12154     Document Type: Article

References (20)

1. Reed LA, Grabowski TJ, Schmidt ML etal. Autosomal dominant dementia with widespread neurofibrillary tangles. Ann Neurol 1997; 42: 564-572.
2. Lindquist SG, Holm IE, Schwartz M etal. Alzheimer disease-like clinical phenotype in a family with FTDP-17 caused by a MAPT R406W mutation. Eur J Neurol 2008; 15: 377-385.
3. van Swieten JC, Stevens M, Rosso SM etal. Phenotypic variation in hereditary frontotemporal dementia with tau mutations. Ann Neurol 1999; 46: 617-626.
4. Rosso SM, Kamphorst W, Ravid R, van Swieten JC. Coexistent tau and amyloid pathology in hereditary frontotemporal dementia with tau mutations. Ann N Y Acad Sci 2000; 920: 115-119.
5. Komatsu J, Ono K, Yanase D etal. Imaging findings of familial dementia with a tau R406W mutation. Acta Neurol Belg 2011; 111: 374-375.
6. Saito Y, Geyer A, Sasaki R etal. Early-onset, rapidly progressive familial tauopathy with R406W mutation. Neurology 2002; 58: 811-813.
7. Morinaga A, Ono K, Ikeda T etal. A comparison of the diagnostic sensitivity of MRI, CBF-SPECT, FDG-PET and cerebrospinal fluid biomarkers for detecting Alzheimer's disease in a memory clinic. Dement Geriatr Cogn Dis 2010; 30: 285-292.
8. Ujike H, Tanabe Y, Takehisa Y, Hayabara T, Kuroda S. A family with X-linked dystonia-deafness syndrome with a novel mutation of the DDP gene. Arch Neurol 2001; 58: 1004-1007.
9. Goedert M, Crowther RA, Spillantini MG. Tau mutations cause frontotemporal dementias. Neuron 1998; 21: 955-958.
10. Hasegawa M, Arai T, Nonaka T etal. Phosphorylated TDP-43 in frontotemporal lobar degeneration and ALS. Ann Neurol 2008; 64: 60-70.
11. Kobayashi K, Kidani T, Ujike H etal. Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP-17) with a missense mutation of S305N closely resembling Pick's disease. J Neurol 2003; 250: 990-992.
12. Hogg M, Grujic ZM, Baker M etal. The L266V tau mutation is associated with frontotemporal dementia and Pick-like 3R and 4R tauopathy. Acta Neuropathol 2003; 106: 323-336.
13. Mirra SS, Heyman A, McKeel D etal. The consortium to establish a registry for Alzheimer's disease (CERAD). Part II. Standardization of the neuropathologic assessment of Alzheimer's disease. Neurology 1991; 41: 479-486.
14. Hyman BT, Phelps CH, Beach TG etal. National Institute on Aging-Alzheimer's association guidelines for the neuropathologic assessment of Alzheimer's disease. Alzheimer Dement 2012; 8: 1-13.
15. Ikeuchi T, Imamura T, Kawase Y etal. Evidence for a common founder and clinical characteristics of Japanese Families with the MAPT R406W mutation. Dement Geriatr Cogn Dis Extra 2011; 1: 267-275.
16. Tolboom N, Koedam ELGE, Schott JM etal. Dementia mimicking Alzheimer's disease owing to a tau mutation: CSF and PET findings. Alzheimer Dis Assoc Disord 2010; 24: 303-307.
17. Rosso SM, Van Herpen E, Pijnenburg YAL etal. Total tau and phosphorylated tau 181 levels in the cerebrospinal fluid of patients with frontotemporal dementia due to P301L and G272V tau mutations. Arch Neurol 2003; 60: 1209-1213.
18. Taylor KI, Probst A, Miserez AR, Monsch U, Tolnay M. Clinical course of neuropathologically confirmed frontal-variant Alzheimer's disease. Nat Clin Pract Neurol 2008; 4: 226-232.
19. Johnson JK, Head E, Kim R, Starr A, Cotman CW. Clinical and pathological evidence for a frontal variant of Alzherimer disease. Arch Neurol 1999; 56: 1233-1239.
20. Mann DMA, McDonagh AM, Pickering-Brown SM, Kowa H, Iwatubo T. Amyloid β protein deposition in patients with frontotemporal lobar dengeneration: relationship to age and aplipoprotein E genotype. Neurosci Lett 2001; 304: 161-164.