Please use this identifier to cite or link to this item: https://hdl.handle.net/20.500.12530/31433
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dc.contributor.authorYardeni, Maya
dc.contributor.authorWeisman, Omri
dc.contributor.authorMandel, Hanna
dc.contributor.authorWeinberger, Ronnie
dc.contributor.authorQuarta, Giovanni
dc.contributor.authorSalazar-Mendiguchía, Joel
dc.contributor.authorGarcia-Pavia, Pablo
dc.contributor.authorLobato-Rodríguez, Maria José
dc.contributor.authorSimon, Lourdes Fajardo
dc.contributor.authorDov, Freimark
dc.contributor.authorArad, Michael
dc.contributor.authorGothelf, Doron
dc.date.accessioned2019-06-28T16:39:08Z-
dc.date.available2019-06-28T16:39:08Z-
dc.date.issued2017-09
dc.identifier.citationAm. J. Med. Genet. A.2017 Sep;(173)9:2461-2466
dc.identifier.urihttps://hdl.handle.net/20.500.12530/31433-
dc.description.abstractDanon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive deficits and psychiatric comorbidities manifested in DD remain an understudied topic. We systematically assessed cognitive abilities and psychiatric comorbidities in 13 males and females. Most of the participants in our cohort (n = 9; 75%) had an IQ score within the normal range, while only one participant had intellectual disability. Participants' performance on the Cognitive Neuropsychiatric Battery (CNB) showed only mildly impaired cognitive abilities in most modules, except in the executive functioning test, which was low compared to healthy controls. Of note, 69% of the participants met criteria for at least one psychiatric disorder, mainly mood and anxiety disorders, occurring alone or in combination in the same patient. The results of the present study challenge earlier reports suggesting that mental retardation is a core constituent in DD. Of importance, it underscores the need to refer Danon patients to psychiatric assessment.
dc.language.isoeng
dc.rightsopenAccess-
dc.subjectDanon disease
dc.subjectIQ
dc.subjectLAMP2
dc.subjectWolff-Parkinson-White syndrome
dc.subjectcardiomyopathy
dc.subjectcognition
dc.subjectpsychiatric comorbidities
dc.subject.meshAdolescent
dc.subject.meshAdult
dc.subject.meshFemale
dc.subject.meshGenetic Diseases, X-Linked
dc.subject.meshGlycogen Storage Disease Type IIb
dc.subject.meshHumans
dc.subject.meshIntellectual Disability
dc.subject.meshLysosomal-Associated Membrane Protein 2
dc.subject.meshMale
dc.subject.meshMiddle Aged
dc.subject.meshMutation
dc.subject.meshYoung Adult
dc.subject.meshCognition
dc.titlePsychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
dc.typeArtículo
dc.identifier.pubmedID28627787
dc.format.volume173
dc.format.page2461-2466
dc.identifier.e-issn1552-4833
dc.identifier.journalAmerican journal of medical genetics. Part A
dc.identifier.doi10.1002/ajmg.a.38320
dc.format.number9
dc.identifier.pmcPMC5561494
dc.pubmedtypeJournal Article
Appears in Collections:Hospitales > H. U. Puerta de Hierro Majadahonda > Artículos
Fundaciones e Institutos de Investigación > IIS H. U. Puerta de Hierro-Segovia de Arana > Artículos

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