Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italia...
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
About this item
Full title
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Publisher
Cham: Springer International Publishing
Journal title
Language
English
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Publication information
Publisher
Cham: Springer International Publishing
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Scope and Contents
Contents
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...
Alternative Titles
Full title
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_proquest_miscellaneous_2550626014
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2550626014
Other Identifiers
ISSN
1590-1874
E-ISSN
1590-3478
DOI
10.1007/s10072-021-05463-0
