Case Report: A Case of a Patient with Smith-Magenis Syndrome and Early-Onset Parkinson's Disease.

Humans Smith-Magenis Syndrome / genetics Parkinson Disease / genetics Middle Aged Male DNA Copy Number Variations Trans-Activators / genetics Age of Onset Female
ID PD RAI1 SMS neurodegenerative disease

Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
02 Aug 2024
Historique:
received: 12 06 2024
revised: 22 07 2024
accepted: 29 07 2024
medline: 10 8 2024
pubmed: 10 8 2024
entrez: 10 8 2024
Statut: epublish

Résumé

Smith-Magenis Syndrome (SMS) is a rare genetic disorder, characterized by intellectual disability (ID), behavioral impairments, and sleep disturbances, as well as multiple organ anomalies in some affected individuals. The syndrome is caused by a deletion in the chromosome band around 17p11.2, including the Retinoic Acid Induced 1 (

Identifiants

DOI: 10.3390/ijms25158447 PMID: 39126013
pubmed: 39126013
pii: ijms25158447
doi: 10.3390/ijms25158447
pii:
doi:

Substances chimiques

RAI1 protein, human 0
Trans-Activators 0

Types de publication

Case Reports Journal Article

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Tchelet Stern (T)

Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel.

Yara Hussein (Y)

Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel.
ORCID: 0000-0001-6173-8584

Diogo Cordeiro (D)

Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel.
ORCID: 0000-0003-2688-5233

Hagit Sadis (H)

Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel.
ORCID: 0009-0000-0723-0229

Tali Garin-Shkolnik (T)

Center for Rare Diseases, Emek Medical Center, Afula 1834111, Israel.

Ronen Spiegel (R)

Pediatric Department B, Emek Medical Center, Afula 1834111, Israel.

Sagit Cohen (S)

Nofim, Daycare, Migdal 1495000, Israel.

Ruth Harari (R)

Nofim, Daycare, Migdal 1495000, Israel.

Ilana Schlesinger (I)

Department of Neurology, Rambam Health Care Campus, Haifa 3109601, Israel.

Shani Stern (S)

Sagol Department of Neurobiology, University of Haifa, Haifa 3103301, Israel.
ORCID: 0000-0002-2644-7068

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Classifications MeSH

questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Case Report: A Case of a Patient with...
questionsmedicales.fr › Malformations et maladies congénitales, héréditaires et néonatales › Maladies génétiques congénitales › Maladies chromosomiques › Syndrome de Smith-Magenis › Case Report: A Case of a Patient with...
questionsmedicales.fr › Maladies du système nerveux › Maladies neurodégénératives › Maladie de Parkinson › Case Report: A Case of a Patient with...
questionsmedicales.fr › Personnes › Tranches d'âge › Adulte › Adulte d'âge moyen › Case Report: A Case of a Patient with...
questionsmedicales.fr › Phénomènes génétiques › Variation génétique › Polymorphisme génétique › Variation structurale du génome › Variations de nombre de copies de segment d'ADN › Case Report: A Case of a Patient with...
questionsmedicales.fr › Acides aminés, peptides et protéines › Protéines › Protéines virales › Protéines virales régulatrices ou accessoires › Transactivateurs › Case Report: A Case of a Patient with...
questionsmedicales.fr › Environnement et santé publique › Santé publique › Facteurs épidémiologiques › Facteurs âges › Âge de début › Case Report: A Case of a Patient with...