Neurológia pre prax 4/2025
Hereditary spastic paraplegia type 6 (SPG6) with phenotypic conversion to ALS
Hereditary spastic paraplegias (HSP) are a group of genetic disorders causing central motor neuron degeneration, while amyotrophic lateral sclerosis (ALS) affects both central and peripheral motor neurons, progressing more rapidly with a poorer prognosis. In this study, we present a case of spastic paraplegia type 6 (SPG6), a rare form of HSP caused by mutations in the NIPA1 gene, that progressed to ALS. Similar phenotypic conversions have also been reported in other HSP types, such as SPG5 and SPG18. This case suggests that there may be a pathophysiological link between these two disorders, but its mechanisms remain unclear and warrant further investigation.
Keywords: hereditary spastic paraplegias, SPG6, NIPA1 gene, amyotrophic lateral sclerosis, phenotypic conversion, neurodegenerative disorders
