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Article

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2016

Masciullo M, Tessa A, Perazza S, Santorelli F M, Perna A, Silvestri G

Abstract excerpt

We describe a novel sporadic case of SPG56, a rare complicated form of HSP, that expands the clinical and molecular spectrum of the disease, being associated to novel mutations in CYP2U1 and showing as novel feature dorsal hydromyelia at spinal cord MRI. The patient presented an early-onset, slowly progressive paraparesis associated with mild mental retardation. Neurological assessments included the Spastic...

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Identifiers

PMID: 26936192
DOI: 10.1016/j.ejpn.2016.02.001

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