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Article

Characterization of spastic paraplegia in a family with a novelPSEN1mutation

13 Feb 2023

Abstract excerpt

Abstract Spastic paraparesis has been described to occur in 13.7% of PSEN1 mutations and can be the presenting feature in 7.5%. In this paper, we describe a family with a particularly young onset of spastic paraparesis due to a novel mutation in PSEN1 (F388S). Three affected brothers underwent comprehensive imaging protocols, two underwent ophthalmological evaluations and one underwent neuropathological...

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PMID: 36895955
DOI: 10.1093/braincomms/fcad030

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