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

ABSTRACT:

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 suffered from a prominent cerebellar oculomotor dysfunction with two hitherto undescribed mutations of PNPLA6.

Methods

Three of five genetically tested family members of a large kindred were affected by spastic gait and a unique and prominent cerebellar oculomotor dysfunction. Further clinical, imaging, laboratory and videonystagmographic data were analyzed. Genetic anal

SUBMITTER: Viertauer S 

PROVIDER: S-EPMC9618546 | biostudies-literature | 2022 Dec

REPOSITORIES: biostudies-literature