Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

Introduction Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal glucosylceramidase β2 (GBA2) gene. Worldwide, approximately twenty SPG46 families have been identified so far. Case report We describe a compound hete...

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Bibliographic Details
Published in:Neurological sciences 2021-11, Vol.42 (11), p.4741-4745
Main Authors: Gatti, Marta, Magri, Stefania, Di Bella, Daniela, Sarto, Elisa, Taroni, Franco, Mariotti, Caterina, Nanetti, Lorenzo
Format: Article
Language:English
Subjects:
Ataxia
Brief Communication
Cerebellar ataxia
Cerebellum
Differential diagnosis
Gait
Glucosylceramidase
Hereditary spastic paraplegia
Medicine
Medicine & Public Health
Neurology
Neuroradiology
Neurosciences
Neurosurgery
Paralysis
Patients
Phenotypes
Psychiatry
Scoliosis
Sjogren's syndrome
Spasticity
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Summary:Introduction Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal glucosylceramidase β2 (GBA2) gene. Worldwide, approximately twenty SPG46 families have been identified so far. Case report We describe a compound heterozygous Italian patient carrying a novel (p.Arg879Gln) and a recurrent (p.Arg399 *) GBA2 gene variant. The patient presented unsteady gait at age 2, and progressively manifested spastic-ataxia, scoliosis, mild intellectual decline, and bilateral cataract. Discussion Clinical manifestations associated with GBA2 gene variants encompass a spectrum of overlapping phenotypes including cerebellar ataxia, spastic paraplegia, and Marinesco-Sjogren-like syndrome. We review previously reported cases of SPG46 and discuss possible genetic differential diagnosis.
ISSN:1590-1874
1590-3478
DOI:10.1007/s10072-021-05463-0