Progranulin mutations in primary progressive aphasia: The PPA1 and PPA3 families

Archives of Neurology

Volumn 64, Issue 1, 2007, Pages 43-47

  Mesulam, Marsel ^a   Johnson, Nancy ^a   Krefft, Thomas A ^b   Gass, Jennifer M ^b   Cannon, Ashley D ^b   Adamson, Jennifer L ^b   Bigio, Eileen H ^a   Weintraub, Sandra ^a   Dickson, Dennis W ^b   Hutton, Michael L ^b   Graff Radford, Neill R ^b  

^a NORTHWESTERN UNIVERSITY   (United States)

^b MAYO GRADUATE SCHOOL   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENOMIC DNA; PROGRANULIN; TAU PROTEIN;

ARTICLE; AUTOPSY; CLINICAL FEATURE; COMPREHENSION; DNA ISOLATION; EXON; GENE MUTATION; HUMAN; LANGUAGE ABILITY; PHENOTYPE; PRIMARY PROGRESSIVE APHASIA; PRIORITY JOURNAL; SIBLING; UBIQUITINATION;

AGED; AGED, 80 AND OVER; APHASIA, PRIMARY PROGRESSIVE; DNA MUTATIONAL ANALYSIS; FAMILY HEALTH; FEMALE; FRONTAL LOBE; HUMANS; IMMUNOHISTOCHEMISTRY; INTERCELLULAR SIGNALING PEPTIDES AND PROTEINS; MALE; MIDDLE AGED; MUTATION; UBIQUITIN;

EID: 33846094364     PISSN: 00039942     EISSN: 15383687     Source Type: Journal    
DOI: 10.1001/archneur.64.1.43     Document Type: Article

References (18)

1. Mesulam MM, Grossman M, Hillis A, Kertesz A, Weintraub S. The core and halo of primary progressive aphasia and semantic dementia. Ann Neurol. 2003;54(suppl 5):S11-S14.
2. Kertesz A, Martinez-Lage P, Davidson W, Munoz DG. The corticobasal degeneration syndrome overlaps progressive aphasia and frontotemporal dementia. Neurology. 2000;55:1368-1375.
3. Mesulam MM, Weintraub S. Spectrum of primary progressive aphasia. In: Rossor MN, ed. Unusual Dementias. London, England: Baillière Tindall; 1992:583-609.
4. Knibb JA, Xuereb JH, Patterson K, Hodges JR. Clinical and pathological characterization of progressive aphasia. Ann Neurol. 2006;59:156-165.
5. Rossor MN, Revesz T, Lantos PL, Warrington EK. Semantic dementia with ubiquitinpositive tau-negative inclusion bodies. Brain. 2000;123(pt 2):267-276.
6. McKhann GM, Albert MS, Grossman M, Miller B, Dickson D, Trojanowski JQ; Work Group on Frontotemporal Dementia and Pick's Disease. Clinical and pathological diagnosis of frontotemporal dementia: report of the Work Group on Frontotemporal Dementia and Pick's Disease. Arch Neurol. 2001;58:1803-1809.
7. Kovach MJ, Waggoner B, Leal SM, et al. Clinical delineation and localization to chromosome 9p13.3-p12 of a unique dominant disorder in four families: hereditary inclusion body myopathy, Paget disease of bone, and frontotemporal dementia. Mol Genet Metab. 2001;74:458-475.
8. Lendon CL, Lynch T, Norten J, et al. Hereditary dysphasia disinhibition dementia: a frontotemporal dementia linked to 17q21-22. Neurology. 1998;50:1546-1555.
9. Mackenzie IR, Baker M, West G, et al. A family with tau-negative frontotemporal dementia and neuronal inclusion linked to chromosome 17. Brain. 2006;129:853-867.
10. Murrell JR, Spillantini MG, Zolo P, et al. Tau gene mutation G398R causes a tauopathy with abundant Pick body-like inclusions and axonal deposits. J Neuropathol Exp Neurol. 1999;58:1207-1226.
11. van der Zee J, Rademakers R, Engelborghs S, et al. A Belgian ancestral haplotype harbours a highly prevalent mutation for 17q21-linked tau-negative FTLD. Brain. 2006;129(pt 4):841-852.
12. Krefft TA, Graff-Radford NR, Dickson DW, Baker M, Castellani RJ. Familial primary progressive aphasia. Alzheimer Dis Assoc Disord. 2003;17:106-112.
13. Baker M, Mackenzie IR, Pickering-Brown SM, et al. Mutations in progranulin cause tau-negative frontotemporal dementia linked to chromosome 17. Nature. 2006;442:916-919.
14. Cruts M, Gijselinck I, van der Zee J, et al. Null mutations in progranulin cause ubiquitin-positive frontotemporal dementia linked to chromosome 17q21. Nature. 2006;442:920-924.
15. Mesulam MM. Primary progressive aphasia: a language-based dementia. N Engl J Med. 2003;349:1535-1542.
16. Guillozet AL, Weintraub S, Mash DC, Mesulam MM. Neurofibrillary tangles, amyloid, and memory in aging and mild cognitive impairment. Arch Neurol. 2003;60:729-736.
17. Gass J, Cannon A, Mackenzie I, et al. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006;15:2988-3001.
18. Parchi P, Petersen RB, Chen SG, et al. Molecular pathology of fatal familial insomnia. Brain Pathol. 1998;8:539-548.