New biallelic GBA2 variant in a patient with SPG46

@article{Spagnoli2020NewBG,
  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},
  year={2020},
  volume={191}
}
4 Citations
Recent advances in understanding hereditary spastic paraplegias and emerging therapies
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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
TLDR
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.
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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.

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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
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Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis
TLDR
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