Hereditary neurodegenerative disorders with spastic-ataxic manifestations: genetic and clinical insights into previously reported variants.

Abstract excerpt

Hereditary neurodegenerative disorders comprise a heterogeneous group of genetic conditions that affect the central and/or peripheral nervous system, often presenting with hallmark clinical features including ataxia, spasticity, dystonia and neuropathy. Our study aims to investigate the underlying cause of rare and overlapping phenotypes of inherited neurodegenerative disorders in the four familial cases of the...

Topics

• Humans
• Male
• Female
• Pedigree
• Muscle Spasticity
• Adult
• Phenotype