دورية أكاديمية
Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia.
| العنوان: | Undifferentiated psychosis or schizophrenia associated with vermis-predominant cerebellar hypoplasia. |
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| المؤلفون: | Leslie AC; University of Minnesota Medical School, Minneapolis, Minnesota, USA., Ward MP; University of Minnesota Medical School, Minneapolis, Minnesota, USA., Dobyns WB; Department of Pediatrics, Division of Genetics and Metabolism, University of Minnesota, Minneapolis, Minnesota, USA. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2024 Mar; Vol. 194 (3), pp. e63416. Date of Electronic Publication: 2023 Nov 07. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Dandy-Walker Syndrome*/diagnosis , Schizophrenia*/diagnostic imaging , Schizophrenia*/genetics , Psychotic Disorders* , Nervous System Malformations*, Cerebellum/*abnormalities, Humans ; Cerebellum/diagnostic imaging ; Developmental Disabilities |
| مستخلص: | Schizophrenia (SCZ) is a well-studied neuropsychiatric condition that has been shown to have a high degree of genetic heritability. Still, little data on the specific genetic risk variants associated with the disease exists. Classification of the SCZ phenotype into SCZ-related endophenotypes is a promising methodology to parse out and elucidate the specific genetic risk variants for each. Here, we present a series of 17 previously reported individuals and a new proband with similar SCZ-related neuropsychiatric characteristics and shared brain imaging findings. Unsurprisingly, these individuals shared classic psychiatric features of SCZ. Interestingly, we also identified shared neuropsychiatric features in this series of individuals that had not been highlighted previously. A consistently decreased IQ, memory impairment, sleep and speech disturbances, and attention deficits were commonly reported findings. The brain imaging findings among these individuals also consistently showed posterior vermis predominant cerebellar hypoplasia (CBLH-V). Most individuals' diagnoses were initially described as Dandy-Walker malformation; however, our independent review of imaging suggests a more consistent pattern of posterior vermis predominant cerebellar hypoplasia rather than true Dandy-Walker malformation. While the specific genetic risk variants for this endophenotype are yet to be described, the aim of this paper is to present the shared neuropsychiatric features and consistent, symmetrical brain image findings which suggest that this subset of individuals comprises an endophenotype of SCZ with a high genetic solve rate. (© 2023 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.) |
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| معلومات مُعتمدة: | United States NH NIH HHS; United States NH NIH HHS |
| فهرسة مساهمة: | Keywords: Dandy-Walker malformation; cerebellar hypoplasia; psychosis; schizophrenia; vermis hypoplasia |
| SCR Disease Name: | Cerebellar Hypoplasia |
| تواريخ الأحداث: | Date Created: 20231107 Date Completed: 20240214 Latest Revision: 20240809 |
| رمز التحديث: | 20240812 |
| DOI: | 10.1002/ajmg.a.63416 |
| PMID: | 37933701 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63416 |