TY - JOUR
T1 - Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
AU - Coarelli, Giulia
AU - Romano, Silvia
AU - Travaglini, Lorena
AU - Ferraldeschi, Michela
AU - Nicita, Francesco
AU - Spadaro, Maria
AU - Fornasiero, Arianna
AU - Frontali, Marina
AU - Salvetti, Marco
AU - Bertini, Enrico
AU - Ristori, Giovanni
N1 - Copyright © 2018 Elsevier B.V. All rights reserved.
PY - 2018/5
Y1 - 2018/5
N2 - 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.
AB - 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.
U2 - 10.1016/j.clineuro.2018.02.042
DO - 10.1016/j.clineuro.2018.02.042
M3 - Article
C2 - 29524657
VL - 168
SP - 60
EP - 63
JO - Clinical Neurology and Neurosurgery
JF - Clinical Neurology and Neurosurgery
SN - 0303-8467
ER -