A5094154445- Genetic Neurodegenerative Diseases
- Mitochondrial Function and Pathology
- Neuroscience of respiration and sleep
- Muscle Physiology and Disorders
- Neurological disorders and treatments
- Vestibular and auditory disorders
- Genetics and Neurodevelopmental Disorders
- Neurological diseases and metabolism
- Cholesterol and Lipid Metabolism
- Hereditary Neurological Disorders
- Parkinson's Disease Mechanisms and Treatments
- DNA Repair Mechanisms
- Hearing, Cochlea, Tinnitus, Genetics
- Lipid metabolism and disorders
Université de Lille
2024-2025
Centre Hospitalier Universitaire de Lille
2024
Biallelic intronic expansions (AAGGG)exp in intron 2 of the RFC1 gene have been shown to be a common cause late-onset ataxia. Since their first description, phenotypes, neurological damage, and pathogenic variants associated with frequently updated. Here, we review various motifs, genetic variants, phenotypes gene. We searched PubMed for scientific articles published between March 1st, 2019, January 15th, 2024. The motifs are highly heterogeneous, making molecular diagnosis clinical...
Abstract Background Little is known about the impact of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) on cognition. Objective Our objective was to determine frequency and severity cognitive impairment in RFC1 ‐positive patients describe pattern deficits. Methods Participants underwent a comprehensive neuropsychological assessment. Volume cerebellum its lobules measured those who 3 Tesla‐magnetic resonance scan. Results Twenty‐one complete assessment, including 71%...
Pseudohypoaldosteronism type II is a rare Mendelian disorder characterized by hypertension, hyperkalemia, hyperchloremia and metabolic acidosis, despite normal glomerular filtration rate. Four genes (KLHL3, CUL3, WNK1 WNK4) are associated with this disease. Mutations in the KLHL3 gene cause pseudohypoaldosteronism either an autosomal dominant or recessive inheritance pattern. Sensory neuropathy has been mutations WNK1, but not KHLH3. We reported unique three-generation family sensory...