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Primary progressive aphasia(PPA)

MedGen UID:
79466
Concept ID:
C0282513
Mental or Behavioral Dysfunction
Synonym: Primary progressive aphasia syndrome
Modes of inheritance:
Non-Mendelian inheritance
MedGen UID:
109109
Concept ID:
C0600599
Genetic Function
Source: Orphanet
A mode of inheritance that depends on genetic determinants in more than one gene.
Not genetically inherited
MedGen UID:
988794
Concept ID:
CN307044
Finding
Source: Orphanet
clinical entity without genetic inheritance.
 
Monarch Initiative: MONDO:0019806
OMIM®: 138945; 607485
Orphanet: ORPHA95432

Definition

Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms). [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPrimary progressive aphasia
Follow this link to review classifications for Primary progressive aphasia in Orphanet.

Professional guidelines

PubMed

Volkmer A, Rogalski E, Henry M, Taylor-Rubin C, Ruggero L, Khayum R, Kindell J, Gorno-Tempini ML, Warren JD, Rohrer JD
Pract Neurol 2020 Apr;20(2):154-161. Epub 2019 Jul 29 doi: 10.1136/practneurol-2018-001921. PMID: 31358572Free PMC Article
Bott NT, Radke A, Stephens ML, Kramer JH
Neurodegener Dis Manag 2014;4(6):439-54. doi: 10.2217/nmt.14.34. PMID: 25531687Free PMC Article
Armstrong MJ, Litvan I, Lang AE, Bak TH, Bhatia KP, Borroni B, Boxer AL, Dickson DW, Grossman M, Hallett M, Josephs KA, Kertesz A, Lee SE, Miller BL, Reich SG, Riley DE, Tolosa E, Tröster AI, Vidailhet M, Weiner WJ
Neurology 2013 Jan 29;80(5):496-503. doi: 10.1212/WNL.0b013e31827f0fd1. PMID: 23359374Free PMC Article

Recent clinical studies

Etiology

Polsinelli AJ, Apostolova LG
Continuum (Minneap Minn) 2022 Jun 1;28(3):676-701. doi: 10.1212/CON.0000000000001082. PMID: 35678398Free PMC Article
Puppala GK, Gorthi SP, Chandran V, Gundabolu G
Neurol India 2021 Sep-Oct;69(5):1144-1152. doi: 10.4103/0028-3886.329593. PMID: 34747778
Volkmer A, Rogalski E, Henry M, Taylor-Rubin C, Ruggero L, Khayum R, Kindell J, Gorno-Tempini ML, Warren JD, Rohrer JD
Pract Neurol 2020 Apr;20(2):154-161. Epub 2019 Jul 29 doi: 10.1136/practneurol-2018-001921. PMID: 31358572Free PMC Article
Marshall CR, Hardy CJD, Volkmer A, Russell LL, Bond RL, Fletcher PD, Clark CN, Mummery CJ, Schott JM, Rossor MN, Fox NC, Crutch SJ, Rohrer JD, Warren JD
J Neurol 2018 Jun;265(6):1474-1490. Epub 2018 Feb 1 doi: 10.1007/s00415-018-8762-6. PMID: 29392464Free PMC Article
Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M
Neurology 2011 Mar 15;76(11):1006-14. Epub 2011 Feb 16 doi: 10.1212/WNL.0b013e31821103e6. PMID: 21325651Free PMC Article

Diagnosis

Puppala GK, Gorthi SP, Chandran V, Gundabolu G
Neurol India 2021 Sep-Oct;69(5):1144-1152. doi: 10.4103/0028-3886.329593. PMID: 34747778
Marshall CR, Hardy CJD, Volkmer A, Russell LL, Bond RL, Fletcher PD, Clark CN, Mummery CJ, Schott JM, Rossor MN, Fox NC, Crutch SJ, Rohrer JD, Warren JD
J Neurol 2018 Jun;265(6):1474-1490. Epub 2018 Feb 1 doi: 10.1007/s00415-018-8762-6. PMID: 29392464Free PMC Article
Olney NT, Spina S, Miller BL
Neurol Clin 2017 May;35(2):339-374. doi: 10.1016/j.ncl.2017.01.008. PMID: 28410663Free PMC Article
Mendez MF
Neurol Clin 2017 May;35(2):263-281. doi: 10.1016/j.ncl.2017.01.005. PMID: 28410659Free PMC Article
Gorno-Tempini ML, Hillis AE, Weintraub S, Kertesz A, Mendez M, Cappa SF, Ogar JM, Rohrer JD, Black S, Boeve BF, Manes F, Dronkers NF, Vandenberghe R, Rascovsky K, Patterson K, Miller BL, Knopman DS, Hodges JR, Mesulam MM, Grossman M
Neurology 2011 Mar 15;76(11):1006-14. Epub 2011 Feb 16 doi: 10.1212/WNL.0b013e31821103e6. PMID: 21325651Free PMC Article

Therapy

Ramanan S, Halai AD, Garcia-Penton L, Perry AG, Patel N, Peterson KA, Ingram RU, Storey I, Cappa SF, Catricala E, Patterson K, Rowe JB, Garrard P, Ralph MAL
Alzheimers Res Ther 2023 Dec 16;15(1):219. doi: 10.1186/s13195-023-01350-2. PMID: 38102724Free PMC Article
Logroscino G, Piccininni M, Graff C, Hardiman O, Ludolph AC, Moreno F, Otto M, Remes AM, Rowe JB, Seelaar H, Solje E, Stefanova E, Traykov L, Jelic V, Rydell MT, Pender N, Anderl-Straub S, Barandiaran M, Gabilondo A, Krüger J, Murley AG, Rittman T, van der Ende EL, van Swieten JC, Hartikainen P, Stojmenovic GM, Mehrabian S, Benussi L, Alberici A, Dell'Abate MT, Zecca C, Borroni B; FRONTIERS group
JAMA Neurol 2023 Mar 1;80(3):279-286. doi: 10.1001/jamaneurol.2022.5128. PMID: 36716024Free PMC Article
Irwin D
J Neurol Neurosurg Psychiatry 2022 Feb;93(2):115. Epub 2021 Aug 18 doi: 10.1136/jnnp-2021-327497. PMID: 34408005Free PMC Article
Eikelboom WS, Janssen N, Jiskoot LC, van den Berg E, Roelofs A, Kessels RPC
Neurosci Biobehav Rev 2018 Sep;92:243-254. Epub 2018 Jun 18 doi: 10.1016/j.neubiorev.2018.06.015. PMID: 29928907
Köhler TS, Fazili AA, Brannigan RE
Urol Clin North Am 2009 Aug;36(3):337-45. doi: 10.1016/j.ucl.2009.05.004. PMID: 19643236

Prognosis

Belder CRS, Marshall CR, Jiang J, Mazzeo S, Chokesuwattanaskul A, Rohrer JD, Volkmer A, Hardy CJD, Warren JD
J Neurol 2024 Feb;271(2):1028-1046. Epub 2023 Oct 31 doi: 10.1007/s00415-023-12030-4. PMID: 37906327Free PMC Article
Botha H, Josephs KA
Continuum (Minneap Minn) 2019 Feb;25(1):101-127. doi: 10.1212/CON.0000000000000699. PMID: 30707189Free PMC Article
Mendez MF
Neurol Clin 2017 May;35(2):263-281. doi: 10.1016/j.ncl.2017.01.005. PMID: 28410659Free PMC Article
Fried-Oken M, Mooney A, Peters B
NeuroRehabilitation 2015;37(1):69-87. doi: 10.3233/NRE-151241. PMID: 26409694Free PMC Article
Bott NT, Radke A, Stephens ML, Kramer JH
Neurodegener Dis Manag 2014;4(6):439-54. doi: 10.2217/nmt.14.34. PMID: 25531687Free PMC Article

Clinical prediction guides

Belder CRS, Marshall CR, Jiang J, Mazzeo S, Chokesuwattanaskul A, Rohrer JD, Volkmer A, Hardy CJD, Warren JD
J Neurol 2024 Feb;271(2):1028-1046. Epub 2023 Oct 31 doi: 10.1007/s00415-023-12030-4. PMID: 37906327Free PMC Article
Thijssen EH, La Joie R, Strom A, Fonseca C, Iaccarino L, Wolf A, Spina S, Allen IE, Cobigo Y, Heuer H, VandeVrede L, Proctor NK, Lago AL, Baker S, Sivasankaran R, Kieloch A, Kinhikar A, Yu L, Valentin MA, Jeromin A, Zetterberg H, Hansson O, Mattsson-Carlgren N, Graham D, Blennow K, Kramer JH, Grinberg LT, Seeley WW, Rosen H, Boeve BF, Miller BL, Teunissen CE, Rabinovici GD, Rojas JC, Dage JL, Boxer AL; Advancing Research and Treatment for Frontotemporal Lobar Degeneration investigators
Lancet Neurol 2021 Sep;20(9):739-752. doi: 10.1016/S1474-4422(21)00214-3. PMID: 34418401Free PMC Article
Finger EC
Continuum (Minneap Minn) 2016 Apr;22(2 Dementia):464-89. doi: 10.1212/CON.0000000000000300. PMID: 27042904Free PMC Article
Sitek EJ, Barczak A, Harciarek M
Psychiatr Clin North Am 2015 Jun;38(2):265-79. Epub 2015 Mar 7 doi: 10.1016/j.psc.2015.01.003. PMID: 25998115
Bott NT, Radke A, Stephens ML, Kramer JH
Neurodegener Dis Manag 2014;4(6):439-54. doi: 10.2217/nmt.14.34. PMID: 25531687Free PMC Article

Recent systematic reviews

Mirbod M, Ayubcha C, Redden HWK, Teichner E, Subtirelu RC, Patel R, Raynor W, Werner T, Alavi A, Revheim ME
Ann Nucl Med 2024 Sep;38(9):673-687. Epub 2024 Jul 19 doi: 10.1007/s12149-024-01958-w. PMID: 39028529Free PMC Article
Conca F, Esposito V, Giusto G, Cappa SF, Catricalà E
Ageing Res Rev 2022 Dec;82:101760. Epub 2022 Oct 13 doi: 10.1016/j.arr.2022.101760. PMID: 36244629
Stalpaert J, Cocquyt EM, Criel Y, Segers L, Miatton M, Van Langenhove T, van Mierlo P, De Letter M
Am J Speech Lang Pathol 2020 Nov 12;29(4):2206-2225. Epub 2020 Aug 17 doi: 10.1044/2020_AJSLP-20-00008. PMID: 32810414
Cadório I, Lousada M, Martins P, Figueiredo D
Int J Lang Commun Disord 2017 Sep;52(5):543-560. Epub 2017 Jan 24 doi: 10.1111/1460-6984.12310. PMID: 28120406
Villarejo-Galende A, Llamas-Velasco S, Gómez-Grande A, Puertas-Martín V, Contador I, Sarandeses P, González-Sánchez M, Trincado R, Pilkington P, Ruiz-Solis S, Pérez-Martínez DA, Herrero-San Martín A
J Neurol 2017 Jan;264(1):121-130. Epub 2016 Nov 4 doi: 10.1007/s00415-016-8324-8. PMID: 27815682

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