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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]

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 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
Smith C, Susilo T
Sci Rep 2021 Jul 2;11(1):13741. doi: 10.1038/s41598-021-92840-6. PMID: 34215772Free PMC Article
Leff A, Barton JJS
Handb Clin Neurol 2021;178:361-386. doi: 10.1016/B978-0-12-821377-3.00015-5. PMID: 33832686
Albonico A, Barton J
F1000Res 2019;8 Epub 2019 May 31 doi: 10.12688/f1000research.18492.1. PMID: 31231507Free PMC Article
Mesulam MM
Brain 1998 Jun;121 ( Pt 6):1013-52. doi: 10.1093/brain/121.6.1013. PMID: 9648540

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
Kieseler ML, Duchaine B
Cortex 2023 May;162:56-64. Epub 2023 Mar 9 doi: 10.1016/j.cortex.2023.01.012. PMID: 36966620Free PMC Article
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
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

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
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
Dalrymple KA, Visconti di Oleggio Castello M, Elison JT, Gobbini MI
PLoS One 2017;12(6):e0179458. Epub 2017 Jun 15 doi: 10.1371/journal.pone.0179458. PMID: 28617825Free PMC Article
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

Albonico A, Barton J
F1000Res 2019;8 Epub 2019 May 31 doi: 10.12688/f1000research.18492.1. PMID: 31231507Free PMC Article
Burns EJ, Bennetts RJ, Bate S, Wright VC, Weidemann CT, Tree JJ
Sci Rep 2017 May 10;7(1):1683. doi: 10.1038/s41598-017-01917-8. PMID: 28490791Free PMC Article
Cousins R
Top Stroke Rehabil 2013 Nov-Dec;20(6):471-7. doi: 10.1310/tsr2006-471. PMID: 24273293
Duchaine B, Nakayama K
Neuropsychologia 2006;44(4):576-85. Epub 2005 Sep 19 doi: 10.1016/j.neuropsychologia.2005.07.001. PMID: 16169565
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
Albonico A, Barton J
F1000Res 2019;8 Epub 2019 May 31 doi: 10.12688/f1000research.18492.1. PMID: 31231507Free PMC Article
Christodoulou GN, Margariti M, Christodoulou N
Psychiatriki 2018 Jan-Mar;29(1):15-18. doi: 10.22365/jpsych.2018.291.15. PMID: 29754115
Duchaine B, Nakayama K
Neuropsychologia 2006;44(4):576-85. Epub 2005 Sep 19 doi: 10.1016/j.neuropsychologia.2005.07.001. PMID: 16169565

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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