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

• Published in: International journal of molecular sciences Vol. 25; no. 17; p. 9754
• Main Authors: 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
• Format: Journal Article
• Language: English
• Published: Switzerland MDPI AG 01.09.2024
• Subjects: Age; Amino acids; Ataxia; Child; Child development; Convulsions & seizures; Diagnosis; Disease; Dystonia; Epilepsy; Exome Sequencing; Families & family life; Family medical history; Female; Genes; Genetic aspects; Genotype & phenotype; Health aspects; Humans; Identification and classification; Juvenile Parkinsonism; metabolism; Movement disorders; Multiomics; Mutation; mutation screening; Mutation, Missense; Nerve Tissue Proteins - genetics; Neurodegeneration; Parkinsonian Disorders - genetics; Parkinsonism; Pathogenesis; Patients; Pediatric research; Pedigree; Phosphatase; Polymorphism, Single Nucleotide; Single nucleotide polymorphisms; SYNJ1; Tremor (Muscular contraction); whole-exome sequencing; Spain; Iran; mutation screening; Juvenile Parkinsonism; metabolism; multiomics; SYNJ1; whole-exome sequencing

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, an...