Publications by authors named "Solange Kapetanovic Garcia"
DNAJ/HSP40 co-chaperones are integral to the chaperone network, bind client proteins and recruit them to HSP70 for folding. We performed exome sequencing on patients with a presumed hereditary muscle disease and no genetic diagnosis. This identified four individuals from three unrelated families carrying an unreported homozygous stop gain (c.
View Article and Find Full Text PDFBackground And Purpose: Mos scales currently used to evaluate spinal muscular atrophy (SMA) patients have only been validated in children. The aim of this study was to assess the construct validity and responsiveness of several outcome measures in adult SMA patients.
Methods: Patients older than 15 years and followed up in five referral centres for at least 6 months, between October 2015 and August 2020, with a motor function scale score (Hammersmith Functional Motor Scale Expanded [HFMSE], Revised Upper Limb module [RULM]) were included.
Article Synopsis
- The study aimed to evaluate the safety and effectiveness of nusinersen in adult patients with 5q spinal muscular atrophy (SMA), involving a cohort of patients over 15 years old who were followed for at least 6 months.
- Results showed that treated patients had significant improvements in motor function and overall health assessments compared to untreated patients, particularly noting a 2-point improvement in the Revised Upper Limb Module (RULM) score after 6 months.
- Despite most treated patients experiencing some adverse effects, primarily mild, the findings suggest that nusinersen could provide functional benefits, particularly for those on treatment for longer periods, although severely affected patients may face a less favorable risk-benefit outcome.
Background: Biallelic pathogenic variants in have recently been associated with two congenital myopathy phenotypes: a severe form associated with hypotonia, long bone fractures, respiratory insufficiency and infantile death, and a milder form characterised by proximal muscle weakness with survival into adulthood.
Objective: We report eight patients from four unrelated families with biallelic pathogenic variants in exon 15 of .
Methods: Whole exome sequencing was used to detect variants in .
Neurological complications of Epstein Barr virus (EBV) infection are infrequent and may include occasionally encephalitis, usually with a benign evolution. We here report on an aggressive case of EBV encephalitis in a 14-year-old boy with extensive basal ganglia involvement, and to a lesser degree of brain cortex who presented atypically with akinetic mutism and non-convulsive status epilepticus, requiring intensive care but showed a favorable outcome. EBV encephalitis is uncommon and its best management is unclear.
View Article and Find Full Text PDFBackground And Objectives: Steinert's disease or myotonic dystrophy type 1 (MD1), (OMIM 160900), is the most prevalent myopathy in adults. It is a multisystemic disorder with dysfunction of virtually all organs and tissues and a great phenotypical variability, which implies that it has to be addressed by different specialities with experience in the disease. The knowledge of the disease and its management has changed dramatically in recent years.
View Article and Find Full Text PDFObjective: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.
Methods: We examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal pathogenic missense variants to identify BAMS subphenotypes.
Results: None of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS.