A5063000663- Glycogen Storage Diseases and Myoclonus
- Extraction and Separation Processes
- Metabolism and Genetic Disorders
- Trace Elements in Health
- Genetic Neurodegenerative Diseases
- Autoimmune Neurological Disorders and Treatments
St. Marianna University School of Medicine
2024
We report a case of Wilson disease (WD) with dilated cardiomyopathy in which whole-genome sequencing (WGS) revealed the rare co-occurrence two novel compound heterozygous ATP7B pathogenic variants (NM_001005918.3:c.2250del/p.N751Tfs*9 and c.3496C>T/p.L1166F) known FLNC variant. Our results highlight usefulness WGS, even diagnosis well-characterized genetic diseases such as WD.
As a debilitating syndrome, paraneoplastic cerebellar degeneration (PCD) remains challenging to treat. Further, anti-Yo antibody (directed against human degeneration-related protein 2) detection in patients with PCD is associated unsatisfactory responses existing therapies. Here, we present the case of 60-year-old woman who developed antibodies and submandibular gland tumor.A presented 5-day history unsteadiness gait inadequate coordination her extremities, along truncal instability....