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Article

Novel phenotype with prominent cerebellar oculomotor dysfunction in spastic paraplegia type 39.

Journal of neurology - 1 Dec 2022

Viertauer Sebastian, Kurth Ingo, Eggermann Katja, Eggers Christian

Abstract excerpt

OBJECTIVES: The term hereditary spastic paraplegia comprises an ever-expanding array of neurological disorders with distinct aetiologies. Spastic paraplegia gene 39 is one of the many genetically defined types with features of other organs and neurological systems in addition to paraspasticity. We describe a large kindred with a novel clinical phenotype as, in addition to spastic paraplegia, affected subjects...

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Identifiers

PMID: 35947152
DOI: 10.1007/s00415-022-11313-6
PMCID: PMC9618546

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