Fanny Mochel
A5046900294- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Lysosomal Storage Disorders Research
- Diet and metabolism studies
- Neurological disorders and treatments
- Hereditary Neurological Disorders
- RNA regulation and disease
- Parkinson's Disease Mechanisms and Treatments
- Glycogen Storage Diseases and Myoclonus
- Neurogenetic and Muscular Disorders Research
- Folate and B Vitamins Research
- Alzheimer's disease research and treatments
- Peroxisome Proliferator-Activated Receptors
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Dementia and Cognitive Impairment Research
- ATP Synthase and ATPases Research
- Advanced MRI Techniques and Applications
- Neuroinflammation and Neurodegeneration Mechanisms
- Cholesterol and Lipid Metabolism
- interferon and immune responses
- Neonatal Health and Biochemistry
- Functional Brain Connectivity Studies
Inserm
2016-2025
Sorbonne Université
2016-2025
Centre National de la Recherche Scientifique
2016-2025
Pitié-Salpêtrière Hospital
2016-2025
Institut du Cerveau
2016-2025
Assistance Publique – Hôpitaux de Paris
2015-2024
CentraleSupélec
2024
Université Paris-Saclay
2021-2024
Sorbonne Paris Cité
2018-2023
Institut de Psychiatrie et Neurosciences de Paris
2021-2023
Huntington disease (HD) is a fatal neurodegenerative disorder, with no effective treatment. The pathogenic mechanisms underlying HD has not been elucidated, but weight loss, associated chorea and cognitive decline, characteristic feature of the that accessible to investigation. We, therefore, performed multiparametric study exploring body its loss in 32 presymptomatic carriers patients early stages disease, compared 21 controls. We combined this multivariate statistical analysis plasma...
Abstract Objective: Adult polyglucosan body disease (APBD) is an autosomal recessive leukodystrophy characterized by neurogenic bladder, progressive spastic gait, and peripheral neuropathy. Polyglucosan bodies accumulate in the central nervous systems are often associated with glycogen branching enzyme (GBE) deficiency. To improve clinical diagnosis enable future evaluation of therapeutic strategies, we conducted a multinational study natural history imaging features APBD. Methods: We...
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and among most common neurogenetic disorders. Identifying causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once defect is known, researchers face challenge of deciphering underlying disease mechanism. Here we characterize large biallelic deletions region encoding ATAD3C, ATAD3B ATAD3A genes. high homology complicates genomic...
To determine whether neurochemical concentrations obtained at two MRI sites using clinical 3T scanners can be pooled when a highly optimized, nonvendor short-echo, single-voxel proton MRS pulse sequence is used in conjunction with identical calibration and quantification procedures.A modified semi-LASER (TE = 28 ms) was to acquire spectra from brain regions (cerebellar vermis pons) on Siemens the same B0 B1 protocols different cohorts of healthy volunteers (N 24-33 per site) matched for age...
<h3>Importance</h3> Molecular diagnosis is difficult to achieve in disease groups with a highly heterogeneous genetic background, such as cerebellar ataxia (CA). In many patients, candidate gene sequencing or focused resequencing arrays do not allow investigators reach conclusion. <h3>Objectives</h3> To assess the efficacy of exome-targeted capture detect mutations genes broadly linked CA large cohort undiagnosed patients and investigate their prevalence. <h3>Design, Setting,...
Autosomal dominant cerebellar ataxias have a marked heterogeneous genetic background, with mutations in 34 genes identified so far. This large amount of implicated accounts for clinical presentations, making genotype-phenotype correlations major challenge the field. While polyglutamine ataxias, linked to CAG repeat expansions such as ATXN1, ATXN2, ATXN3, ATXN7, CACNA1A and TBP, been extensively characterized cohorts, there is need comprehensive assessment frequency phenotype more...
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited involvement also occurs in patients an autosomal recessive neurocutaneous due to ALDH18A1 mutations. encodes delta-1-pyrroline-5-carboxylate synthase (P5CS), enzyme that catalyses first and common step of proline ornithine biosynthesis from glutamate. Through exome sequencing candidate gene screening, we report two...
As gene-based therapies may soon arise for patients with spinocerebellar ataxia (SCA), there is a critical need to identify biomarkers of disease progression effect sizes greater than clinical scores, enabling trials smaller sample sizes.We enrolled unique cohort SCA1 (n = 15), SCA2 12), SCA3 20) and SCA7 10) 24 healthy controls similar age, sex body mass index. We collected longitudinal imaging data at baseline follow-up (mean interval months). performed both manual automated volumetric...
IFIH1 gain-of-function has been reported as a cause of type I interferonopathy encompassing spectrum autoinflammatory phenotypes including Aicardi–Goutières syndrome and Singleton Merten syndrome. Ascertaining patients through European North American collaboration, we set out to describe the molecular, clinical interferon status cohort individuals with pathogenic heterozygous mutations in IFIH1. We identified 74 from 51 families segregating total 27 likely Ten adult individuals, 13.5% all...
Pathogenic variants in the
SCA27B caused by FGF14 intronic heterozygous GAA expansions with at least 250 repeats accounts for 10-60% of cases unresolved cerebellar ataxia. We aimed to assess the size and frequency expanded alleles in individuals ataxia as compared controls characterize genetic clinical variability.