Publications by authors named "Marta Correa-Vela"
Aim: To evaluate early dystonic features in children and adolescents with SGCE-myoclonus-dystonia.
Method: In this cross-sectional study, 49 patients (26 females and 23 males) with SGCE-myoclonus-dystonia (aged 15y 2mo, SD 12y) with childhood-onset (2y 10mo, SD 1y 10mo) dystonia were examined using a standardized video recorded protocol. Dystonia was rated using the Writer's Cramp and Gait Dystonia Rating Scales.
The human iPSC cell lines, PLANFiPS1-Sv4F-1 (RCPFi004-A), PLANFiPS2-Sv4F-1 (RCPFi005-A), PLANFiPS3-Sv4F-1 RCPFi006-A), derived from dermal fibroblast from three patients suffering PLAN (PLA2G6-associated neurodegeneration; MIM 256600) caused by mutations in the PLA2G6 gene, was generated by non-integrative reprogramming technology using OCT3/4, SOX2, CMYC and KLF4 reprogramming factors. The pluripotency was assessed by immunocytochemistry and RT-PCR. Differentiation capacity was verified in vitro.
View Article and Find Full Text PDFMyoclonus-dystonia (MD) is a rare childhood-onset movement disorder, with an estimated prevalence of about 2 per 1,000,.000 in Europe, characterized by myoclonic jerks in combination with focal or segmental dystonia. Pathogenic variants in the gene encoding ε-sarcoglycan (SGCE), a maternally imprinted gene, are the most frequent genetic cause of MD.
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- The study investigated the effectiveness of fosmetpantotenate in improving symptoms and stabilizing disease progression for patients with Pantothenate kinase-associated neurodegeneration (PKAN), a condition with no approved treatments.
- Conducted over 24 weeks, the randomized, double-blind, placebo-controlled trial included 84 patients aged 6 to 65 with specific genetic mutations, comparing the effects of a 300 mg oral dose of fosmetpantotenate against a placebo.
- Results showed that fosmetpantotenate was safe; however, it did not demonstrate a significant improvement in patient function as measured by the PKAN-Activities of Daily Living scale.
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome.
Parkinsonism Relat Disord
November 2020
Objective: To perform phenotype and genotype characterization in myoclonus-dystonia patients and to validate clinical rating tools.
Method: Two movement disorders experts rated patients with the Burke-Fahn-Marsden and Unified-Myoclonus rating scales using a video-recording protocol. Clinimetric analysis was performed.
Unlabelled: FBXO7 is implicated in the ubiquitin-proteasome system and parkin-mediated mitophagy. FBXO7defects cause a levodopa-responsive parkinsonian-pyramidal syndrome(PPS).
Methods: We investigated the disease molecular bases in a child with PPS and brain iron accumulation.
The neurological phenotype of 3-hydroxyisobutyryl-CoA hydrolase (HIBCH) and short-chain enoyl-CoA hydratase (SCEH) defects is expanding and natural history studies are necessary to improve clinical management. From 42 patients with Leigh syndrome studied by massive parallel sequencing, we identified five patients with SCEH and HIBCH deficiency. Fourteen additional patients were recruited through collaborations with other centres.
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