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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

Pozueta A, Lage C, García-Martínez M, Kazimierczak M, Bravo M, López-García S, Riancho J, González-Suarez A, Vázquez-Higuera JL, de Arcocha-Torres M, Banzo I, Jiménez-Bonilla J, Berciano J, Rodríguez-Rodríguez E, Sánchez-Juan P
J Alzheimers Dis 2019;72(4):1129-1144. doi: 10.3233/JAD-190877. PMID: 31683488
Shah P
Br J Psychiatry 2016 Jan;208(1):94-5. doi: 10.1192/bjp.208.1.94b. PMID: 26729846
Burns MS
Top Stroke Rehabil 2004 Winter;11(1):1-9. doi: 10.1310/N13K-YKYQ-3XX1-NFAV. PMID: 14872395

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
Barton JJ, Stubbs JL, Paquette S, Duchaine B, Schlaug G, Corrow SL
Neuropsychologia 2023 May 3;183:108540. Epub 2023 Mar 11 doi: 10.1016/j.neuropsychologia.2023.108540. PMID: 36913989
Haque S, Vaphiades MS, Lueck CJ
J Neuroophthalmol 2018 Sep;38(3):379-392. doi: 10.1097/WNO.0000000000000556. PMID: 28945627
Mesulam MM
Brain 1998 Jun;121 ( Pt 6):1013-52. doi: 10.1093/brain/121.6.1013. PMID: 9648540
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
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
Barton JJS, Corrow SL
Neuropsychologia 2016 Aug;89:119-124. Epub 2016 Jun 14 doi: 10.1016/j.neuropsychologia.2016.06.008. PMID: 27312748Free PMC Article
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
Koh YH
Acta Neurol Taiwan 2022 Dec 30;31(4):186-187. PMID: 35470413
Pertzov Y, Krill D, Weiss N, Lesinger K, Avidan G
Cortex 2020 Aug;129:119-132. Epub 2020 Apr 28 doi: 10.1016/j.cortex.2020.04.007. PMID: 32450329
Mesad S, Laff R, Devinsky O
Epilepsy Behav 2003 Oct;4(5):567-70. doi: 10.1016/j.yebeh.2003.07.012. PMID: 14527501

Prognosis

Avidan G, Behrmann M
Annu Rev Vis Sci 2021 Sep 15;7:301-321. Epub 2021 May 20 doi: 10.1146/annurev-vision-113020-012740. PMID: 34014762
Albonico A, Barton J
F1000Res 2019;8 Epub 2019 May 31 doi: 10.12688/f1000research.18492.1. PMID: 31231507Free PMC Article
Duchaine B, Nakayama K
Neuropsychologia 2006;44(4):576-85. Epub 2005 Sep 19 doi: 10.1016/j.neuropsychologia.2005.07.001. PMID: 16169565
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
Schaller P, Caldara R, Richoz AR
Neuropsychologia 2023 Feb 10;180:108479. Epub 2023 Jan 7 doi: 10.1016/j.neuropsychologia.2023.108479. PMID: 36623806
Towler J, Fisher K, Eimer M
Q J Exp Psychol (Hove) 2017 Feb;70(2):316-344. Epub 2016 Apr 27 doi: 10.1080/17470218.2016.1165263. PMID: 26967836
Duchaine B, Nakayama K
Neuropsychologia 2006;44(4):576-85. Epub 2005 Sep 19 doi: 10.1016/j.neuropsychologia.2005.07.001. PMID: 16169565
Ellis HD, Young AW
Br J Psychiatry 1990 Aug;157:239-48. doi: 10.1192/bjp.157.2.239. PMID: 2224375

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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