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Article

Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia.

Clinical neurology and neurosurgery - 1 May 2018

Coarelli Giulia, Romano Silvia, Travaglini Lorena, Ferraldeschi Michela, Nicita Francesco, Spadaro Maria, Fornasiero Arianna, Frontali Marina, Salvetti Marco, Bertini Enrico, Ristori Giovanni

Abstract excerpt

Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes...

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Identifiers

PMID: 29524657
DOI: 10.1016/j.clineuro.2018.02.042

Genes

GBA2

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