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Prosopagnosia

MedGen UID:
65884
Concept ID:
C0234512
Mental or Behavioral Dysfunction
Synonym: Prosopagnosia (disease)
SNOMED CT: Agnosia for faces (18358003); Prosopagnosia (18358003)
 
HPO: HP:0010528
Monarch Initiative: MONDO:0003227
OMIM®: 610382

Definition

Inability to recognize faces of familiar persons. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVProsopagnosia

Conditions with this feature

Prosopagnosia, hereditary
MedGen UID:
419809
Concept ID:
C2931455
Disease or Syndrome
Prosopagnosia is the inability to recognize someone by the face alone, in the absence of sensory or intellectual impairment (Schwarzer et al., 2007). Almost all reported cases are of the acquired form, but there is evidence for a familial form as well (McConachie, 1976; de Haan, 1999; Galaburda and Duchaine, 2003; Kennerknecht et al., 2006).
Leukodystrophy, hypomyelinating, 15
MedGen UID:
1633653
Concept ID:
C4693733
Disease or Syndrome
Hypomyelinating leukodystrophy-15 (HLD15) is an autosomal recessive neurodegenerative disorder characterized by onset of motor and cognitive impairment in the first or second decade of life. Features include dystonia, ataxia, spasticity, and dysphagia. Most patients develop severe optic atrophy, and some have hearing loss. Brain imaging shows hypomyelinating leukodystrophy with thin corpus callosum. The severity of the disorder is variable (summary by Mendes et al., 2018) For a discussion of genetic heterogeneity of HLD, see 312080.

Professional guidelines

PubMed

DeGutis J, Campbell A
Cortex 2024 Aug;177:389-392. Epub 2024 Jun 24 doi: 10.1016/j.cortex.2024.06.006. PMID: 38969568
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Recent clinical studies

Etiology

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Haque S, Vaphiades MS, Lueck CJ
J Neuroophthalmol 2018 Sep;38(3):379-392. doi: 10.1097/WNO.0000000000000556. PMID: 28945627
Mesulam MM
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Young AW, Ellis HD
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Ellis HD
Br J Psychol 1975 Nov;66(4):409-26. doi: 10.1111/j.2044-8295.1975.tb01477.x. PMID: 1106805

Diagnosis

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Haque S, Vaphiades MS, Lueck CJ
J Neuroophthalmol 2018 Sep;38(3):379-392. doi: 10.1097/WNO.0000000000000556. PMID: 28945627
Martinaud O
Rev Neurol (Paris) 2017 Jul-Aug;173(7-8):451-460. Epub 2017 Aug 24 doi: 10.1016/j.neurol.2017.07.009. PMID: 28843416
Bate S, Tree JJ
Q J Exp Psychol (Hove) 2017 Feb;70(2):193-200. Epub 2016 Jun 20 doi: 10.1080/17470218.2016.1195414. PMID: 27251859
Damásio AR, Castro-Caldas A
Lancet 1974 Oct 12;2(7885):892-3. doi: 10.1016/s0140-6736(74)91219-7. PMID: 4137800

Therapy

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Wang P, Mu W, Zhan G, Song Z, Fang T, Zhang X, Wang J, Niu L, Bin J, Zhang F, Zhang L, Jia J, Kang X
Annu Int Conf IEEE Eng Med Biol Soc 2022 Jul;2022:3678-3681. doi: 10.1109/EMBC48229.2022.9871791. PMID: 36086144
Prüss H, Rothkirch M, Kopp U, Hamer HM, Hagge M, Sterzer P, Saschenbrecker S, Stöcker W, Harms L, Endres M
Neurology 2014 Oct 7;83(15):1384-6. Epub 2014 Sep 5 doi: 10.1212/WNL.0000000000000865. PMID: 25194012
Mendez MF, Ramírez-Bermúdez J
Psychosomatics 2011 Nov-Dec;52(6):571-4. doi: 10.1016/j.psym.2011.06.004. PMID: 22054629Free PMC Article
Janati A
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Prognosis

Tsantani M, Gray KLH, Cook R
Cortex 2020 Sep;130:318-326. Epub 2020 Jun 26 doi: 10.1016/j.cortex.2020.06.003. PMID: 32721648
Stumps A, Saad E, Rothlein D, Verfaellie M, DeGutis J
Cortex 2020 Sep;130:64-77. Epub 2020 May 18 doi: 10.1016/j.cortex.2020.04.016. PMID: 32640375Free PMC Article
Voskuil PH
Front Neurol Neurosci 2013;31:116-25. Epub 2013 Mar 5 doi: 10.1159/000343265. PMID: 23485896
Ellis HD, Young AW
Br J Psychiatry 1990 Aug;157:239-48. doi: 10.1192/bjp.157.2.239. PMID: 2224375
Young AW, Ellis HD
Brain Cogn 1989 Jan;9(1):16-47. doi: 10.1016/0278-2626(89)90042-0. PMID: 2912473

Clinical prediction guides

Kamensek T, Susilo T, Iarocci G, Oruc I
Autism Res 2023 Nov;16(11):2100-2109. Epub 2023 Sep 23 doi: 10.1002/aur.3030. PMID: 37740564
Sellal F
Rev Neurol (Paris) 2022 Sep;178(7):649-653. Epub 2021 Dec 1 doi: 10.1016/j.neurol.2021.11.002. PMID: 34863530
Towler J, Eimer M
Cogn Neuropsychol 2012;29(5-6):503-29. Epub 2012 Oct 16 doi: 10.1080/02643294.2012.716757. PMID: 23066851
Knutson KM, DeTucci KA, Grafman J
Neuropsychologia 2011 Jun;49(7):1851-62. Epub 2011 Mar 21 doi: 10.1016/j.neuropsychologia.2011.03.009. PMID: 21414330Free PMC Article
Young AW
Philos Trans R Soc Lond B Biol Sci 1992 Jan 29;335(1273):47-53; discussion 54. doi: 10.1098/rstb.1992.0006. PMID: 1348137

Recent systematic reviews

Campos DF, Rocca AR, Caixeta LF
Alzheimer Dis Assoc Disord 2022 Jul-Sep 01;36(3):272-279. Epub 2022 Jul 21 doi: 10.1097/WAD.0000000000000511. PMID: 35867973
Feuerriegel D, Churches O, Hofmann J, Keage HAD
Clin Neurophysiol 2015 Jun;126(6):1141-1158. Epub 2014 Sep 28 doi: 10.1016/j.clinph.2014.09.015. PMID: 25306210

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