A5010189992- Lysosomal Storage Disorders Research
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Family and Disability Support Research
- Mitochondrial Function and Pathology
- Child Nutrition and Feeding Issues
- Glycogen Storage Diseases and Myoclonus
- ATP Synthase and ATPases Research
- Autoimmune and Inflammatory Disorders Research
- Coenzyme Q10 studies and effects
- RNA regulation and disease
- Carbohydrate Chemistry and Synthesis
- Folate and B Vitamins Research
- RNA modifications and cancer
- Autism Spectrum Disorder Research
- Cellular transport and secretion
- Neurological and metabolic disorders
- Epilepsy research and treatment
- Amino Acid Enzymes and Metabolism
- Fetal and Pediatric Neurological Disorders
- Comparative Animal Anatomy Studies
- Biomedical Research and Pathophysiology
- Vasculitis and related conditions
- Neonatal Health and Biochemistry
- Advanced battery technologies research
Hospital Sant Joan de Déu Barcelona
2007-2024
Institut de Recerca Sant Joan de Déu
2021-2024
Sant Joan de Déu Research Foundation
2014-2019
Centre for Biomedical Network Research on Rare Diseases
2008-2014
Instituto de Salud Carlos III
2009-2014
Institut d'Investigació Biomédica de Bellvitge
2012
Bellvitge University Hospital
2012
Curtin University
2008
Kennedy Krieger Institute
2008
Civitan International
2008
Background: Rett syndrome is an uncommon neurodevelopmental disorder with incidence of 1:9,000 live female births. The principal genetic cause was first reported in 1999 when the association mutations methyl-CpG-binding protein 2 (or MECP2) gene identified. This study uses data from a large international database, InterRett, to examine genotype–phenotype relationships and compares these previous findings population-based cohort.
Recessive mutations in the five eucaryotic initiation factor 2B (eIF2B) subunits have been found leukodystrophies of variable age at onset and severity.To evaluate clinical spectrum eIF2B-related disorders search for a phenotype-genotype correlation.Ninety-three individuals (78 families) with an undetermined leukodystrophy were selected on MRI-based criteria childhood ataxia central hypomyelination/vanishing white matter (CACH/VWM) EIF2B genes analysis.Eighty-nine percent MRI CACH/VWM...
Niemann–Pick disease type C (NP-C) is a rare, autosomal-recessive, progressive neurological caused by mutations in either the NPC1 gene (in 95% of cases) or NPC2 gene. This observational, multicentre genetic screening study evaluated frequency and phenotypes NP-C consecutive adult patients with psychiatric symptoms. Diagnostic testing for involved exonic sequencing dosage analysis. When available, results filipin staining, plasma cholestane-3β,5α,6β-triol assays measurements relevant...
Abstract Background Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going large-scale NPC clinical data may generate better understandings the natural history disease. Here we report patient from International Registry (INPDR). Method INPDR a web-based, patient-led independent registry for prospective and retrospective patients. Baseline patients enrolled into September 2014 to December...
To better characterize Niemann‐Pick type C (NPC) in Spain and improve genetic counselling, molecular analyses were carried out 40 unrelated Spanish patients. The search identified 70/80 alleles (88%) involving 38 different NPC1 mutations, 26 of which are described for the first time. No patient with NPC2 mutations was identified. novel include 14 amino acid substitutions [R372W (c.1114C > T), P434L (c.1301C C479Y (c.1436G A), K576R (c.1727G V727F (c.2179G M754K (c.2261T S865L (c.2594C...
<h3>Objectives</h3> This study aimed to compare the phenotype of Rett syndrome cases with C-terminal deletions that different <i>MECP2</i> mutations and examine phenotypic variation within deletions. <h3>Methods</h3> Cases were selected from InterRett, an international database population-based Australian Syndrome Database. (n=832) included if they had a pathogenic mutation in which nature amino acid change was known. Three severity scale systems used, individual aspects also compared....
The Suspicion Index (SI) screening tool was developed to identify patients suspected of having Niemann-Pick disease type C (NP-C). SI provides a risk prediction score (RPS) based on NP-C manifestations within and across domains (visceral, neurological, psychiatric). aim these subanalyses further examine the discriminatory power by age manifestation-associations suspicion-level leading manifestations.The original retrospectively collected data were split into three patient groups, where...
Abstract Context 4H or POLR3-related leukodystrophy is an autosomal recessive disorder typically characterized by hypomyelination, hypodontia, and hypogonadotropic hypogonadism, caused biallelic pathogenic variants in POLR3A, POLR3B, POLR1C, POLR3K. The endocrine growth abnormalities associated with this have not been thoroughly investigated to date. Objective To systematically characterize of patients leukodystrophy. Design An international cross-sectional study was performed on 150...
White matter abnormalities are a feature of many inborn errors metabolism and magnetic resonance imaging (MRI) the brain has become an important tool in diagnostic workup these disorders. Recently, patients were reported with potentially treatable disorder serine biosynthesis. They presented congenital microcephaly, severe psychomotor retardation intractable seizures. Low concentrations amino acids serine, glycine as well 5-methyltetrahydrofolate found plasma CSF due to deficiency enzyme...
Rett syndrome was associated with low cerebrospinal fluid (CSF) 5-methyltetrahydrofolate (5MTHF) in 42-50% of European patients whereas approximately 93% the from North-America had a normal CSF 5MTHF status. We determined folate status living North- and South-Western Europe measured serum receptor (FR) autoantibodies blocking type to explain reduced transport across choroid plexus. Irrespective their MECP2 genotype despite plasma values, 14 33 (42%) levels. Blocking FR were found 8 (24%), 6...
When processed by the rapid Golgi method, a significant reduction (P less than 0.002) of dendritic arborization Purkinje cells located at tips folia rostral vermis was demonstrated in four human cases cerebellar atrophy, related to chronic alcohol consumption. Except for isolated damaged on depth sulci all but one case, no differences were observed between alcoholic and controls comparable ages among remainder or hemispheres. These results suggest that structural changes, which precede...
Previous studies in Rett syndrome (RS) patients suggested various abnormalities biogenic amines, pterins, and folate values cerebrospinal fluid (CSF). Our aim was to analyse these metabolites CSF of 16 RS (age range: 2 - 23 years). Biogenic 5-methyltetrahydrofolate were measured by HPLC with electrochemical fluorescence detection.CSF decreased 8 out (average: 53.6 nmol/L; 19 92) when compared our reference 74.6 45 127). These eight had epilepsy, while 4 who did not have epilepsy showed...
3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a). The patient presented with West syndrome, psychomotor delay, failure to thrive, microcephaly, atypical ocular movements, and pyramidal signs. Treatment oral L-serine abolished seizures improved development, hyperexcitability, head growth, cortical subcortical hypotrophy, hypomyelination the brain on MRI scans. congenital error that probably leads syndrome.