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Novel Splice-Site and Missense Variant of PNPLA6 in an Austrian Family Causing Spastic Paraplegia-39 with Cerebellar Oculomotor Disorder

2022-01-05

Abstract excerpt

<title>Abstract</title> <p><bold>Background </bold>The term hereditary spastic paraplegia comprises an ever-expanding array of neurological disorders with distinct aetiologies. Spastic paraplegia 39 is one of the many variants with additional features of other organs and neurological systems. We describe a large kindred with two hitherto undescribed mutations of <italic>PNPLA6</italic> and a novel clinical phenot...

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Literature Corpus work: 420ac3d8-5779-54fc-86f5-5afe3ebfffb7
DOI: 10.21203/rs.3.rs-1142999/v1

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