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Article

Sensory ataxia as a prominent clinical presentation in three families with mutations in CYP7B1.

Journal of neurology - 1 Apr 2014

Di Fabio Roberto, Marcotulli Christian, Tessa Alessandra, Leonardi Luca, Storti Eugenia, Pierelli Francesco, Santorelli Filippo M, Casali Carlo

Abstract excerpt

Pathogenic mutations in CYP7B1 account for SPG5, an autosomal recessive hereditary spastic paraplegia characterized by a complex phenotype including visual problems and cerebellar dysfunction. Sensory ataxia is not usually regarded as a typical clinical feature of SPG5. The purpose of this study was to describe six patients showing features of sensory ataxia as the prominent and/or initial symptoms of SPG5. Six...

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PMID: 24519355
DOI: 10.1007/s00415-014-7247-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

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