Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia [3]

Acta Neuropathologica

Volumn 110, Issue 3, 2005, Pages 317-319

  Woulfe, John ^a   Kertesz, Andrew ^a   Frohn, Inge ^a   Bauer, Sharon ^a   George Hyslop, Peter St ^a   Bergeron, Catherine ^a  

^a UNIVERSITY OF OTTAWA   (Canada)

Author keywords

Frontotemporal dementia; Gerstmann Str ussler Scheinker disease; Inherited prion disease; Prion protein; Tau

Indexed keywords

ADENOSINE; ALANINE; AMYLOID BETA PROTEIN; ARGININE; GENOMIC DNA; GLUTAMINE; GUANOSINE; PRION PROTEIN; SERINE; TAU PROTEIN; THREONINE; TYROSINE; VALINE;

ADULT; ANAMNESIS; APRAXIA; AUTOPSY; BRAIN CORTEX ATROPHY; CASE REPORT; CHROMOSOME 17; CLINICAL FEATURE; CODON; CONCENTRATION LOSS; CORTICOBASAL DEGENERATION; CREUTZFELDT JAKOB DISEASE; FEMALE; FRONTOTEMPORAL DEMENTIA; GENE AMPLIFICATION; GENE MUTATION; GENETIC VARIABILITY; GERSTMANN STRAUSSLER SCHEINKER SYNDROME; GLIOSIS; HOMOZYGOSITY; HUMAN; HYPOKINESIA; IMMUNOBLOTTING; LETTER; MEMORY DISORDER; MINI MENTAL STATE EXAMINATION; NEUROFIBRILLARY TANGLE; NEUROPATHOLOGY; NEUROPSYCHOLOGICAL TEST; NIEMANN PICK DISEASE; NUCLEAR MAGNETIC RESONANCE IMAGING; ONSET AGE; PARESTHESIA; PARKINSONISM; POINT MUTATION; PRIORITY JOURNAL; SENSORY DYSFUNCTION; SLURRED SPEECH; SPEECH DISORDER;

AMINO ACID SUBSTITUTION; BRAIN; DEMENTIA; DIAGNOSIS, DIFFERENTIAL; DISEASE PROGRESSION; DNA MUTATIONAL ANALYSIS; FATAL OUTCOME; FEMALE; GENETIC MARKERS; GENETIC PREDISPOSITION TO DISEASE; GERSTMANN-STRAUSSLER-SCHEINKER DISEASE; GLIOSIS; HUMANS; MIDDLE AGED; MUTATION; NERVE DEGENERATION; NEUROFIBRILLARY TANGLES; PRIONS; SENILE PLAQUES;

EID: 26444461261     PISSN: 00016322     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00401-005-1054-0     Document Type: Letter

References (14)

1. Bergeron C, Lowe J (2003) Frontotemporal degeneration. In: Dickson D (ed) Neurodegeneration: The molecular pathology of dementia and movement disorders. ISN Neuropath Press, Basel, pp 340-341
2. Ghetti B, Tagliavini F, Masters CL, Beyreuther K, Giaccone G, Verga L, Farlow MR, Conneally PM, Dlouhy SR, Azzarelli B, Bugiani O (1989) Gerstmann-Sträussler-Scheinker disease. II. Neurofibrillary tangles and plaques with PrP-amyloid coexist in an affected family. Neurology 39:1453-1461
3. Ghetti B, Piccardo P, Frangione B, Bugiani O, Giaccone G, Young K, Prelli F, Farlow MR, Dlouhy SR, Tagliavani F (1996) Prion protein amyloidosis. Brain Pathol 6:127-145
4. Hardy J, Allsop D (1991) Amyloid deposition as the central event in the etiology of Alzheimer's disease. Trends Pharmacol Sci 12:383-388
5. Hodges JR, Davies RR, Xuereb JH, Casey B, Broe M, Bak TH, Kril JJ, Halliday GM (2004) Clinicopathological correlates in frontotemporal dementia. Ann Neurol 56:399-406
6. Hsiao K, Dlouhy SR, Farlow MR, Cass C, DaCosta M, Conneally PM, Hodes ME, Ghetti B, Prusiner SB (1992) Mutant prion proteins in Gerstmann-Sträussler-Scheinker disease with neurofibrillary tangles. Nat Genet 1:68-71
7. Ikeda S-I, Yanagisawa N, Glenner GG, Allsop D (1992) Gerstmann-Sträussler-Scheinker disease showing ß-protein amyloid deposits in the peripheral regions of PrP-immunoreactive amyloid plaques. Neurodegeneration 1:281-288
8. Josephs KA, Holton JL, Rossor MN, Godbolt AK, Ozawa T, Strand K, Khan N, Al-Sarraj S, Revesz T (2004) Frontotemporal lobar degeneration and ubiquitin immunohistochemistry. Neuropathol Appl Neurobiol 30:369-373
9. Kitamoto T, Iizuka R, Tateishi J (1993) An amber mutation of prion protein in Gerstmann-Sträussler syndrome with mutant PrP plaques. Biochem Biophys Res Commun 192:525-531
10. Kitamoto T, Amano N, Terao Y, Nakazato Y, Ishiki T, Mizutani T, Tateishi J (1993) A new inherited prion disease (PrP-P105L mutation) showing spastic paraparesis. Ann Neurol 34:808-813
11. Nitrini R, Da Silva LST, Rosemberg S, Caramelli P, Carrilho PEM, Lughetti P, Passos-Bueno MR, Zatz M, Albrecht S, LeBlanc A (2001) Prion disease resembling frontotemporal dementia and parkinsonism linked to chromosome 17. Arq Neuropsiquiatr 59:161-164
12. Piccardo P, Dlouhy SR, Lievens PM, Young K, Bird TD, Nochlin D, Dickson DW, Vinters HV, Zimmerman TR, Mackenzie IR, Kish SJ, Ang LC, De Carli C, Pocchiari M, Brown P, Gibbs CJ Jr, Gajdusek DC, Bugiani O, Ironside J, Tagliavini F, Ghetti B (1998) Phenotypic variability of Gerstmann-Straussler-Scheinker disease is associated with prion protein heterogeneity. J Neuropathol Exp Neurol 57:979-988
13. Tranchant C, Sergeant N, Wattez A, Mohr M, Warter JM, Delacourte A (1997) Neurofibrillary tangles in Gerstmann-Sträussler-Scheinker syndrome with the A117V prion gene mutation. J Neurol Neurosurg Psychiatry 63:240-246
14. Yamada M, Itoh Y, Fujigasaki H, Naruse S, Kaneko K, Kitamoto T, Tateishi J, Otomo E, Hayakawa M, Tanaka J (1993) A missense mutation at codon 105 with codon 129 polymorphism of the prion protein gene in a new variant of Gerstmann-Sträussler-Scheinker disease. Neurology 43:2723-2724