Publications by authors named "Claire Bar"
Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.
Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.
Article Synopsis
- * A new case of NKH was identified involving a child with a unique genetic variant in the GLRX5 gene that led to significant neurological problems, confirmed through MRI and cerebrospinal fluid analysis.
- * The child, who experienced a rapid decline in health, passed away at four months old, demonstrating that this case was more severe than previously documented instances of GLRX5-related NKH, emphasizing the importance of genetic factors in the disorder's severity and symptoms.
Article Synopsis
- - Fabry disease (FD) is a rare genetic disorder linked to the GLA gene and is marked by a range of symptoms affecting various organs, often signaled by chronic pain.
- - Two studies were conducted to determine the prevalence of FD in chronic pain patients, testing alpha-galactosidase A activity in men and analyzing the GLA gene in women.
- - The findings indicated that FD's prevalence in this group is about 1 in 1000 individuals, suggesting that while routine screening for FD in chronic pain patients is not essential, awareness of its symptoms is crucial for diagnosis, especially with family histories of the disease.
Article Synopsis
- KBG syndrome is an autosomal dominant genetic disorder characterized by neurodevelopmental issues, intellectual disability, behavioral problems, epilepsy, and distinct physical features.
- This study aimed to analyze the diagnostic pathway for individuals with KBG syndrome, focusing on the healthcare professionals involved and the reasons for referrals.
- Results indicated that pediatricians were the primary referrers for genetic consultation, mainly due to concerns about learning delays or intellectual disabilities in children.
Introduction: Pathogenic variants in ATP1A3 cause various phenotypes of neurological disorders, including alternating hemiplegia of childhood 2, CAPOS syndrome (cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss) and rapid-onset dystonia-parkinsonism (RDP). Early developmental and epileptic encephalopathy has also been reported. Polymicrogyria has recently been added to the phenotypic spectrum of ATP1A3-related disorders.
View Article and Find Full Text PDFAim: KCNB1 encephalopathy encompasses a broad phenotypic spectrum associating intellectual disability, behavioral disturbances, and epilepsies of various severity. Using standardized parental questionnaires, we aimed to capture the heterogeneity of the adaptive and behavioral features in a series of patients with KCNB1 pathogenic variants.
Methods: We included 25 patients with a KCNB1 encephalopathy, aged from 3.
Objective: We aimed to delineate the phenotypic spectrum and long-term outcome of individuals with KCNB1 encephalopathy.
Methods: We collected genetic, clinical, electroencephalographic, and imaging data of individuals with KCNB1 pathogenic variants recruited through an international collaboration, with the support of the family association "KCNB1 France." Patients were classified as having developmental and epileptic encephalopathy (DEE) or developmental encephalopathy (DE).
Article Synopsis
- Developmental and epileptic encephalopathies (DEE) are complex neurodevelopmental disorders linked to various genetic variations, with recent focus on KCNB1 gene mutations.
- This study reviews 37 patients with KCNB1 variants, identifying 18 novel mutations and emphasizing the presence of mostly de novo missense changes affecting key protein regions.
- Patients frequently experience severe neurodevelopmental issues, particularly language and behavioral challenges, with 85% developing epilepsy; notably, those with truncating variants have milder symptoms.
Article Synopsis
- Tuberous sclerosis complex (TSC) is a genetic disease with diverse symptoms that complicate the transition to adult healthcare, particularly for patients who had epilepsy during childhood.
- A multicenter study in France surveyed 60 patients aged 18 and older about their experiences with medical follow-up and transitions in care, revealing issues like cognitive impairment and unmet needs for psychiatric support.
- Most patients felt their transition to adult care was positive, but they found the change of care providers stressful, highlighting gaps in understanding their condition and the importance of continuity in medical support.
Aim: We aimed to evaluate the contribution of early magnetic resonance imaging (MRI) for the presymptomatic diagnosis of Sturge-Weber syndrome (SWS) in infants with a facial port-wine birthmark (PWB).
Method: Asymptomatic infants with a facial PWB who performed a first MRI scan before 3 months and a second MRI scan after 9 months were included in this study. Leptomeningeal enhancement on T1-weighted imaging and four indirect signs of leptomeningeal angioma (choroid plexus enlargement, cerebral atrophy, signal inversion of the white matter with T2 hyposignal, and T1 hypersignal) were screened on the first MRI scan and correlated with clinical and/or radiological diagnosis of SWS.
Article Synopsis
- The article was initially published under Nature Research's License to Publish.
- It has now been updated to be available under a Creative Commons BY 4.0 license.
- Both the PDF and HTML versions of the article have been modified to reflect this change.
Purpose: Variants in IQSEC2, escaping X inactivation, cause X-linked intellectual disability with frequent epilepsy in males and females. We aimed to investigate sex-specific differences.
Methods: We collected the data of 37 unpublished patients (18 males and 19 females) with IQSEC2 pathogenic variants and 5 individuals with variants of unknown significance and reviewed published variants.
Purpose: Sturge-Weber syndrome (SWS) is a neurocutaneous disorder characterized by a facial port-wine stain, a glaucoma, and a leptomeningeal angioma. Epilepsy occurs in more than 75% of affected children, and seizures occurring in the first year of life are associated with a poor neurological prognosis. The aim of this study was to identify possible predictive markers of epilepsy on electroencephalogram (EEG) performed prior to seizure onset in children with SWS.
View Article and Find Full Text PDFObjectives: To describe the clinical course, neuroimaging findings and functional outcome of idiopathic spinal cord infarction (SCI) in adolescents.
Methods: Retrospective and descriptive analyses of seven patients with idiopathic SCI and 50 additional cases from the literature were included. Data collected concerned clinical presentation, MRI findings, initial diagnosis, treatments and functional outcome at the last medical visit.
Traumatic brain injury (TBI) is the leading cause of death and disability in children. Indeed, the acute mechanical injury often evolves to a chronic brain disorder with long-term cognitive, emotional and social dysfunction even in the case of mild TBI. Contrary to the commonly held idea that children show better recovery from injuries than adults, pediatric TBI patients actually have worse outcome than adults for the same injury severity.
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