Carmen Espinós

Genetic testing and exchangeable copper can improve the accuracy of Wilson disease diagnoses.

Marina Berenguer, Mercè Torra, Carmen Espinós, Rocío Andreu Escrivá et autres

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Kinesin Light Chain 1–Related Spastic‐Dystonic Tetraparesis into Adulthood

Juan Darío Ortigoza‐Escobar, Itxaso Martí, Lara Pardina Vilella, Javier Ruiz‐Martínez et autres

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Integrated multiomics analysis reveals metabolic and microbiome alterations in Wilson disease

Edna Ripollés, Paula Hernández-Calderón, Martina Palomino-Schätzlein, Laura Jorge-Bueno et autres

Wilson disease (WD) is a rare autosomal recessive disorder caused by mutations in ATP7B , which encodes a copper transporter. Abnormal ATP7B function leads to copper deposition, mainly in the liver and brain, resulting in hepatic, neurological, and psychiatric impairments. Metabolic alterations …

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Omics datasets of Deep metabolic dysfunction profiling and drug-host-microbe interactions in the Wilson's Disease gut-liver axis

Edna Ripollés, Paula Hernández-Calderón, Martina Palomino-Schätzlein, Ariadna Bono et autres

The data correspond to a observational case–control study that investigated metabolic and lipidomic alterations in patients with Wilson’s disease (WD) compared with age- and sex-matched healthy controls. Participants with genetically confirmed WD (Leipzig score ≥4) receiving disease-specific treatment were included, while individuals …

es (code pays fourni par la source)

Omics datasets of Deep metabolic dysfunction profiling and drug-host-microbe interactions in the Wilson's Disease gut-liver axis

Edna Ripollés, Paula Hernández-Calderón, Martina Palomino-Schätzlein, Ariadna Bono et autres

The data correspond to a observational case–control study that investigated metabolic and lipidomic alterations in patients with Wilson’s disease (WD) compared with age- and sex-matched healthy controls. Participants with genetically confirmed WD (Leipzig score ≥4) receiving disease-specific treatment were included, while individuals …

es (code pays fourni par la source)

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós et autres

BACKGROUND: Hereditary spastic paraparesis (HSP) encompasses a genetically and clinically heterogeneous group of neurodegenerative disorders, primarily characterized by progressive lower limb spasticity and weakness of the lower limbs. Although more than 80 genes have been associated with HSP, achieving definite genetic diagnosis …

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Undiagnosed wilson disease in cryptogenic cirrhosis: a genetic study

Marina Berenguer, Edna Ripollés, Ariadna Bono, Angela Carvalho-Gomes et autres

INTRODUCTION AND OBJECTIVES: Wilson disease is a rare autosomal recessive disorder caused by copper accumulation, primarily affecting the liver and brain. While genetic estimates suggest a global prevalence of 13.9-15.4 per 100,000 individuals, clinical diagnoses are significantly lower, raising concerns of underdiagnosis. …

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A new genotype of the IDH3A gene causes retinitis pigmentosa, generating functional dyschromatopsia from early childhood

Nuria Rosell-Saiz, Antonio Sierra‐Rivera, Jordi Tortosa-Carreres, Clara Monferrer-Adsuara et autres

Introduction We report the case of a 42-year-old Venezuelan woman with childhood-onset autosomal recessive retinitis pigmentosa type 90 (RP90), presenting an unusual and distinctive clinical phenotype characterized by macular pseudocoloboma, very early-onset acquired color vision disorder progressing to severe functional dyschromatopsia, and …

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20104. POTENCIALES BIOMARCADORES EN LA MICROBIOTA INTESTINAL DE PACIENTES CON LA ENFERMEDAD DE WILSON

E. Ripollés Campos, S. Domènech Dauder, Ariadna Bono, Anna Miralpeix et autres

Profile of plasma microRNAs as a potential biomarker of Wilson’s disease

Ana Sánchez‐Monteagudo, Edna Ripollés, Oihana Murillo, Sofia Domènech et autres

Abstract Background Wilson’s disease (WD) is a rare condition resulting from autosomal recessive mutations in ATP7B , a copper transporter, manifesting with hepatic, neurological, and psychiatric symptoms. Timely diagnosis and appropriate treatment yield a positive prognosis, while delayed identification and/or insufficient therapy …

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Expanding the Clinical Spectrum of DRP2 -Associated Charcot-Marie-Tooth Disease

Rafael Sivera, Ana L. Pelayo‐Negro, Ivonne Jericó, Cristina Domínguez‐González et autres

BACKGROUND AND OBJECTIVES: gene (encoding dystrophin-related protein 2) cause the disruption of the periaxin-DRP2-dystroglycan complex and have been linked to Charcot-Marie-Tooth disease. However, the causality and the underlying phenotype of the genetic alterations are not clearly defined. METHODS: germline variants evaluated at …

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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders

Camila Armirola-Ricaurte, Noortje Zonnekein, Georgios Koutsis, Silvia Amor‐Barris et autres

PURPOSE: We describe 3 families with Charcot-Marie-Tooth neuropathy (CMT), harboring a homozygous NDUFS6 NM_004553.6:c.309+5G>A variant previously linked to fatal Leigh syndrome. We aimed to characterize clinically and molecularly the newly identified patients and understand the mechanism underlying their milder phenotype. METHODS: The …

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