Anna Heinzmann
A5083356204- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Neurological disorders and treatments
- Cancer Genomics and Diagnostics
- DNA Repair Mechanisms
- Hereditary Neurological Disorders
- Amyotrophic Lateral Sclerosis Research
- Long-Term Effects of COVID-19
- Neurological diseases and metabolism
- Infectious Diseases and Tuberculosis
- Connective tissue disorders research
- Cardiac Arrest and Resuscitation
- Tuberculosis Research and Epidemiology
- Peripheral Neuropathies and Disorders
- Palliative Care and End-of-Life Issues
- Nuclear Receptors and Signaling
- Neurogenetic and Muscular Disorders Research
- Connexins and lens biology
- Healthcare Technology and Patient Monitoring
- Traumatic Brain Injury and Neurovascular Disturbances
- BRCA gene mutations in cancer
- Prion Diseases and Protein Misfolding
- Genomics and Phylogenetic Studies
Pitié-Salpêtrière Hospital
2013-2024
Sorbonne Université
2013-2024
Assistance Publique – Hôpitaux de Paris
2013-2024
Institut du Cerveau
2020-2024
Inserm
2022-2024
Centre National de la Recherche Scientifique
2022-2024
Université Paris Cité
2023
Laboratoire de psychologie clinique, psychopathologie, psychanalyse
2023
Allen Institute for Brain Science
2021-2023
Institut de Psychiatrie et Neurosciences de Paris
2022
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.
Expanded CAG repeats in coding regions of different genes are the most common cause dominantly inherited spinocerebellar ataxias (SCAs). These unstable through germline, and larger lead to earlier onset. We measured somatic expansion blood samples collected from 30 SCA1, 50 SCA2, 74 SCA3, SCA7 individuals over a mean interval 8.5 years, along with postmortem tissues fetal examine at stages life. showed that mosaicism increases time. Expansion levels significantly among SCAs correlate repeat...
BACKGROUND Previous studies report a morning peak in the occurrence of out-of-hospital sudden cardiac death but lack detailed information on underlying arrhythmias. We used documentation system semiautomated defibrillators by emergency medical technicians to investigate circadian pattern defined arrhythmias and influence demographic patient characteristics this pattern. METHODS AND RESULTS From December 1988 1990, 703 consecutive patients (63% men; age, 67 +/- 17 years) with were registered...
To foster trial-readiness of coenzyme Q8A (COQ8A)-ataxia, we map the clinicogenetic, molecular, and neuroimaging spectrum COQ8A-ataxia in a large worldwide cohort, provide first progression data, including treatment response to Q10 (CoQ10).Cross-modal analysis multicenter cohort 59 COQ8A patients, genotype-phenotype correlations, 3D-protein modeling, vitro mutation analyses, magnetic resonance imaging (MRI) markers, disease progression, CoQ10 data.Fifty-nine patients (39 novel) with 44...
Usually, molecular diagnosis of spinocerebellar ataxia is based on a step-by-step approach with targeted sizing four repeat expansions accounting for most dominant cases, then sequencing other genes. Nowadays, genome allows detection pathogenic variants in single step. The ExpansionHunter tool can detect short-read data. Recent studies have shown that also be used to identify exome We tested exomes research context as second-line analysis, after exclusion main CAG half the probands. First,...
Objective GLUT1 deficiency syndrome (Glut1DS) is a treatable neurometabolic disease that causes wide range of neurological symptoms in children and adults. However, its diagnosis relies on an invasive test, i.e., lumbar puncture (LP) to measure glycorrhachia, and, sometimes complex, molecular analyses the <i>SLC2A1</i> gene. This procedure limits number patients able receive standard care. We wished validate diagnostic performance METAglut1™, simple blood test quantifies at erythrocyte...
No effective cure is available for neurogenetic diseases such as Huntington disease, spinocerebellar ataxias, and Friedreich ataxia, all of which cause progressive motor, cognitive, psychiatric symptoms leading, in the long term, to severe communication (among other) impairments. In end-of-life situations, advanced directives (indications formulated by patient about choices) are one decision-making resource relatives, caregivers, health care professionals. Given slowly nature these diseases,...
Background Low uptake of presymptomatic testing and medically assisted reproduction in families impacted by neurogenetic diseases prompted us to investigate how reproductive options are considered whether there is a relationship with perceived severity the disease. We hypothesised that self-estimated would influence opinion on prenatal/preimplantation diagnosis be motivation inform relatives about their risk. Methods invited people evaluate familial disease using analogic visual scales...
With targeted treatment trials on the horizon, identification of sensitive and valid outcome measures becomes a priority for >100 spastic ataxias. While digital-motor measures, assessed using wearable sensors, are considered prime candidates ataxias, genotype-specific validation studies lacking. We here aimed to identify candidate outcomes paraplegia type 7 (SPG7)-one most common ataxias-that (1) reflect patient-relevant health aspects, even in mild, trial-relevant disease stages; (2)...
Abstract Background The aim of this study was to characterize hereditary spastic paraplegias (HSP) patients' urodynamic profiles and development bladder symptoms. Methods This is a multicentric retrospective which included patients presenting with disorders. We reviewed medical records in individuals HSP recorded age at onset gait disorders, disability stage the time assessment. Results 122 participants. They were mostly men ( n = 74) median interview 54.6 ± 13.0 [25–76] years. underlying...