Publications by authors named "Ivonne Jerico Pascual"
Article Synopsis
- * Data was collected from 17 centers, revealing 29 mutations in 144 patients, with the most common being p.Gly38Arg, and showing significant regional variations and the presence of novel mutations.
- * Older age at onset and female sex were linked to faster progression and shorter survival, indicating the need for targeted treatment approaches for SOD1 mutations in ALS.
Autoantibody screening in Guillain-Barré syndrome.
J Neuroinflammation
November 2021
Background: Guillain-Barré syndrome (GBS) is an acute inflammatory neuropathy with a heterogeneous presentation. Although some evidences support the role of autoantibodies in its pathogenesis, the target antigens remain unknown in a substantial proportion of GBS patients. The objective of this study is to screen for autoantibodies targeting peripheral nerve components in Guillain-Barré syndrome.
View Article and Find Full Text PDFObjective: To study baseline serum neurofilament light chain (sNfL) levels as a prognostic biomarker in Guillain-Barré syndrome (GBS).
Methods: We measured NfL in serum (98 samples) and cerebrospinal fluid (CSF) (24 samples) of patients with GBS prospectively included in the International GBS Outcome Study (IGOS) in Spain using single-molecule array (SiMoA) and compared them with 53 healthy controls (HCs). We performed multivariable regression to analyse the association between sNfL levels and functional outcome at 1 year.
Phosphoglycerate kinase (PGK)1 deficiency is an X-linked inherited disease associated with different clinical presentations, sometimes as myopathic affectation without hemolytic anemia. We present a 40-year-old male with a mild psychomotor delay and mild mental retardation, who developed progressive exercise intolerance, cramps and sporadic episodes of rhabdomyolysis but no hematological features. A genetic study was carried out by a next-generation sequencing (NGS) panel of 32 genes associated with inherited metabolic myopathies.
View Article and Find Full Text PDFIntroduction: Type 1 myotonic dystrophy (MD-1) or Steinert disease is a multisystemic progressive disorder. Studies have shown cognitive deficits, depressive symptoms and a high incidence of anxiety personality traits that compromise both the functionality and the quality of life of these patients.
Aim: To describe the cognitive and psychopathological profile of a sample of patients with the adult variant of MD-1.