A5044819385- Hereditary Neurological Disorders
- Neurological diseases and metabolism
- BRCA gene mutations in cancer
- Botulinum Toxin and Related Neurological Disorders
- CRISPR and Genetic Engineering
- Genomics and Rare Diseases
Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo
2024
Universidade de São Paulo
2024
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of genetic disorders featuring lower extremity spasticity and weakness. The "ears the lynx" is magnetic resonance imaging (MRI) sign that refers to degeneration forceps minor. Despite mimicking acquired conditions, like ependymitis granularis, it considered hallmark some HSPs, such as types 15 11.[1] However, there were other reported have this sign,[2] [3] particularly when accompanied by atrophy anterior portion corpus callosum.
The Clinical Genome Resource (ClinGen) Gene Curation Expert Panels (GCEPs) have historically focused on specific organ systems or phenotypes; thus, the ClinGen Syndromic Disorders GCEP (SD-GCEP) was formed to address an unmet need.