Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.

doi:10.3390/ijms25179754

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Article

Identification of SYNJ1 in a Complex Case of Juvenile Parkinsonism Using a Multiomics Approach.

International journal of molecular sciences - 9 Sept 2024

Leno-Durán Ester, Arrabal Luisa, Roldán Susana, Medina Inmaculada, Alcántara-Domínguez Clara, García-Cabrera Victor, Saiz Jorge, Barbas Coral, Sánchez Maria José, Entrala-Bernal Carmen, Fernández-Rosado Francisco, Lorente Jose Antonio, Gutierrez-Ríos Purificacion, Martínez-Gonzalez Luis Javier

Abstract excerpt

This study aimed to elucidate the genetic causes underlying the juvenile parkinsonism (JP) diagnosed in a girl with several family members diagnosed with spinocerebellar ataxia type 2 (SCA2). To achieve this, whole-exome sequencing, analysis of CAG repeats, RNA sequencing analysis on fibroblasts, and metabolite identification were performed. As a result, a homozygous missense mutation SNP T>C (rs2254562) in...

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PMID: 39273702
DOI: 10.3390/ijms25179754
PMCID: PMC11396201

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