New biallelic GBA2 variant in a patient with SPG46

  title={New biallelic GBA2 variant in a patient with SPG46},
  author={C. Spagnoli and S. Schiavoni and Susanna Rizzi and G. Salerno and D. Frattini and C. Fusco},
  journal={Clinical Neurology and Neurosurgery},
4 Citations
Recent advances in understanding hereditary spastic paraplegias and emerging therapies
The focus is on the HSP with cerebellar ataxias since this is a frequent association described for several genes and this overlap leads to an intermediary group of spastic ataxia which is actively genetically and clinically studied. Expand
Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype
A compound heterozygous Italian patient carrying a novel and a recurrent GBA2 gene variant is described, who progressively manifested spastic-ataxia, scoliosis, mild intellectual decline, and bilateral cataract. Expand
Clinical and genetic update of hereditary spastic paraparesis.
The natural history is known for certain genetic subgroups, with genotype-phenotype correlations partially explaining childhood or late onset, but the search for genetic modifying factors, in addition to the causal pathogenic variant or environmental influencers, is still needed. Expand
Paediatric‐onset hereditary spastic paraplegias: a retrospective cohort study
To describe the clinical and neurogenetic spectrum of paediatric‐onset hereditary spastic paraplegias (HSPs) diagnosed in our unit.


Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
By NGS, 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), is found, expanding the genetic and clinical spectrum of SPG46 related HSP. Expand
Lack of enzyme activity in GBA2 mutants associated with hereditary spastic paraplegia/cerebellar ataxia (SPG46).
An assessment of the expression levels and enzyme activities of mutant forms of GBA2 offers a first insight in the biochemical basis of the complex pathologies seen in SPG46, and suggests that SPG 46 patients have a severe deficit in GBA 2 activity, because the GBA1 mutants are intrinsically inactive and/or reduced in amount. Expand
Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Interactome networks have been postulated by bioinformatics and biological analyses of spastic paraplegia genes, which would contribute to the development of new therapeutic approaches. Expand
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
Overall, each of three genes analyzed shows a low mutation frequency in a general population of complicated HSP, which underline the genetic heterogeneity of ARHSP-TCC and the clinical overlap between complicated H SP and the recessive ataxia syndromes. Expand