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 known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders. We report on a 56- year-old man affected by sporadic complicated HSP consisting of a pyramidal syndrome, cerebellar ataxia, congenital cataract, pes cavus, axonal sensory-motor peripheral neuropathy and cognitive decline. Brain MRI showed cerebellar atrophy and thin corpus callosum. By NGS we found a novel homozygous biallelic c.452-1G > C mutation in the b-glucosidase 2 gene (GBA2), known to be causative for autosomal recessive hereditary spastic paraplegia type 46 (SPG46). The rarity of this inherited form besides reporting on a novel mutation, expands the genetic and clinical spectrum of SPG46 related HSP.
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia / Coarelli, Giulia; Romano, Silvia; Travaglini, Lorena; Ferraldeschi, Michela; Nicita, Francesco; Spadaro, Maria; Fornasiero, Arianna; Frontali, Marina; Salvetti, Marco; Bertini, Enrico; Ristori, Giovanni. - In: CLINICAL NEUROLOGY AND NEUROSURGERY. - ISSN 0303-8467. - STAMPA. - 168:(2018), pp. 60-63. [10.1016/j.clineuro.2018.02.042]
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Coarelli, Giulia;Romano, Silvia;Travaglini, Lorena;Ferraldeschi, Michela;Nicita, Francesco;Spadaro, Maria;Fornasiero, Arianna;Salvetti, Marco;Bertini, Enrico;Ristori, Giovanni
2018
Abstract
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 known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders. We report on a 56- year-old man affected by sporadic complicated HSP consisting of a pyramidal syndrome, cerebellar ataxia, congenital cataract, pes cavus, axonal sensory-motor peripheral neuropathy and cognitive decline. Brain MRI showed cerebellar atrophy and thin corpus callosum. By NGS we found a novel homozygous biallelic c.452-1G > C mutation in the b-glucosidase 2 gene (GBA2), known to be causative for autosomal recessive hereditary spastic paraplegia type 46 (SPG46). The rarity of this inherited form besides reporting on a novel mutation, expands the genetic and clinical spectrum of SPG46 related HSP.File | Dimensione | Formato | |
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