Neurol. pro Praxi, 2007; 3: 180-183

Primárna progresívna afázia – zriedkavá alebo poddiagnostikovaná

MUDr. Stanislav ©utovský, Mgr. Martin Malík, prof. MUDr. Pavel Traubner, PhD., prof. MUDr. Peter Turčáni, PhD.
I. neurologická klinika FNsP, Bratislava

Primárna progresívna afázia (PPA) je neurodegeneratívne ochorenie, ktoré je klinicky charakterizované progresívnym vývojom poruchy reči, spočiatku charakteru eferentnej motorickej afázie, pričom s progresiou ochorenia sa pridruľuje aj porucha senzorickej zloľky. Ochorenie končí mutizmom, »aľkým dementným syndrómom a akinézou. Priemerné preľívanie pacientov od začiatku prvých príznakov ochorenia je 5 rokov. Didakticky je primárna progresívna afázia spolu s frontotemporálnou demenciou a sémantickou demenciou, ktoré vąak majú rozdielny klinický obraz aj patologicko-anatomickú topografiu včlenená do súboru nazývaného Frontotemporálna lobárna degenerácia (FTLD) alebo Pickov komplex. Patologicko-anatomicky (topograficky) je PPA charakterizovaná asymetrickou atrofiou mozgu s výraznou prevahou v dominantnej hemisfére (najčastejąie µavej). Prináąame kazuistiky troch pacientov s progresívnou poruchou reči a s pridruľeným vývojom demencie, uzavretými ako primárna progresívna afázia.

Keywords: primárna progresívna afázia, Pickov komplex, frontotemporálna lobárna degenerácia, tau proteín

Published: August 1, 2007  Show citation

ACS AIP APA ASA Harvard Chicago Chicago Notes IEEE ISO690 MLA NLM Turabian Vancouver
©utovský S, Malík M, Traubner P, Turčáni P. Primárna progresívna afázia – zriedkavá alebo poddiagnostikovaná. Neurol. praxi. 2007;8(3):180-183.
Download citation

References

  1. Baba Y, Tsuboi Y, Baker MC, Uitti RJ, Hutton ML, Dickson DW, Farrer M, et al. The effect of tau genotype on clinical features in FTDP-17. Parkinsonism Relat Disord. 2005 Jun; 11 (4): 205-208. Go to original source... Go to PubMed...
  2. Boeve BF, Tremont-Lukats IW, Waclawik AJ, Murrell JR, Hermann B, Jack CR Jr, Shiung MM, Smith GE, Nair AR, Lindor N, Koppikar V, Ghetti B. Longitudinal characterization of two siblings with frontotemporal dementia and parkinsonism linked to chromosome 17 associated with the S305N tau mutation. Brain 128: 752-772, 2005. Go to original source... Go to PubMed...
  3. Gass J, Cannon A, Mackenzie IR, Boeve B, Baker M, Adamson J, Crook R, Melquist S, Kuntz K, Petersen R, Josephs K, Pickering-Brown SM, Graff-Radford N, Uitti R, Dickson D, Wszolek Z, Gonzalez J, Beach TG, Bigio E, Johnson N, Weintraub S, Mesulam M, White CL 3rd, Woodruff B, Caselli R, Hsiung GY, Feldman H, Knopman D, Hutton M, Rademakers R. Mutations in progranulin are a major cause of ubiquitin-positive frontotemporal lobar degeneration. Hum Mol Genet. 2006 Oct 15; 15 (20): 2988-3001. Go to original source... Go to PubMed...
  4. Iijima M, Tabira T, Poorkaj P, Schellenberg GD, Trojanowski JQ, Lee VM, Schmidt ML, Takahashi K, Nabika T, Matsumoto T, Yamashita Y, Yoshioka S, Ishino H.A distinct familial presenile dementia with a novel missense mutation in the tau gene.Neuroreport. 1999 Feb 25; 10 (3): 497-501. Go to original source... Go to PubMed...
  5. Kertesz A, Hillis A, Munoz DG. Frontotemporal degeneration, Pick's disease, Pick complex, and Ravel. Ann Neurol 2003; 54 (suppl 5): S1-S2. Go to original source... Go to PubMed...
  6. Kobayashi K, Hayashi M, Kidani T, Nakano H, Miyazu K, Ujike H, Kuroda S, Koshino Y. Pick's disease in 2 brothers with S305N mutation: note in supplement to an earlier communication. Clinical Neuropathology 21: 191-193, 2002.
  7. Kobayashi K, Hayashi M, Kidani T, Ujike H, Iijima M, Ishihara T, Nakano H, Sugimori K, Shimazaki M, Kuroda S, Koshino Y. Pick's disease pathology of a missense mutation of S305N of frontotemporal dementia and parkinsonism linked to chromosome 17: another phenotype of S305N. Dement Geriatr Cogn Disord 17: 293-297, 2004. Go to original source... Go to PubMed...
  8. Kobayashi K, Kidani T, Ujike H, Hayashi M, Ishihara T, Miyazu K, Kuroda S, Koshino Y. Another phenotype of frontotemporal dementia and parkinsonism linked to chromosome-17 (FTDP17) with a missense mutation of S305N closely resembling Pick's disease. Journal of Neurology 250: 990-992, 2003. Go to original source... Go to PubMed...
  9. Mesulam MM, Grossmann 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. Go to original source... Go to PubMed...
  10. Miller BL, Diehl J, Freedman M, Kertesz A, Mendez M, Rascovsky K. International approaches to frontotemporal dementia diagnosis: From social cognition to neuropsychology. Ann Neurol 2003; 54 (suppl 5): S7-S10. Go to original source... Go to PubMed...
  11. Munoz D, Dickson DW, Bergeon C, Mackenzie IRA, Delacourte A, Zhukareva V, The neuropathology and biochemistry of frontotemporal dementia Ann Neurol 2003; 54 (suppl 5): S24-S28. Go to original source... Go to PubMed...
  12. Neary D, Frontotemporal Degeneration, Pick Disease and Corticobasal Degeneration Arch. Neurol 1997; 54: 1425-1427. Go to original source... Go to PubMed...
  13. Neary D, Snowden J, Mann D. Frontotemporal dementia.Lancet Neurol. 2005 Nov; 4 (11): 771-780. Review. Go to original source... Go to PubMed...
  14. Poorkaj P, Grossman M, Steinbart E, Payami H, Sadovnick A, Nochlin D, Tabira T, Trojanowski JQ, Borson S, Galasko D, Reich S, Quinn B, Schellenberg G, Bird TD. Frequency of tau gene mutations in familial and sporadic cases of non-Alzheimer dementia. Archives of Neurology 58: 383-387, 2001. Go to original source... Go to PubMed...
  15. Siest G, Pillot T, Régis-Bailly A, Leninger-Muller B, Steinmetz J, Galteau MM, Visvikis S. Apolipoprotein E: An important gene and protein to follow in laboratory medicine. Clin Chem. 1995 41: 1068-1086. Go to original source...
  16. Sobrido MJ, Novel tau Polymorphisms, Tau haplotypes and splicing in familial and sporadic frontotemporal dementia and Alzheimers disease. Arch. Neurol. 2003; 60: 698-702. Go to original source... Go to PubMed...




Neurology for Practice

Madam, Sir,
please be aware that the website on which you intend to enter, not the general public because it contains technical information about medicines, including advertisements relating to medicinal products. This information and communication professionals are solely under §2 of the Act n.40/1995 Coll. Is active persons authorized to prescribe or supply (hereinafter expert).
Take note that if you are not an expert, you run the risk of danger to their health or the health of other persons, if you the obtained information improperly understood or interpreted, and especially advertising which may be part of this site, or whether you used it for self-diagnosis or medical treatment, whether in relation to each other in person or in relation to others.

I declare:

  1. that I have met the above instruction
  2. I'm an expert within the meaning of the Act n.40/1995 Coll. the regulation of advertising, as amended, and I am aware of the risks that would be a person other than the expert input to these sites exhibited


No

Yes

If your statement is not true, please be aware
that brings the risk of danger to their health or the health of others.