RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient

Neuropediatrics 2018; 49(06): 419
DOI: 10.1055/s-0038-1672174

Letter to the Editor

Georg Thieme Verlag KG Stuttgart · New York

Carlotta Spagnoli

¹Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

,

Daniele Frattini

¹Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

,

Grazia Gabriella Salerno

¹Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

,

Carlo Fusco

¹Department of Pediatrics, Child Neurology Unit, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

²Pediatric Neurophysiology Laboratory, Azienda Unità Sanitaria Locale-IRCCS di Reggio Emilia, Reggio Emilia, Italy

References
1 Crow YJ, Zaki MS, Abdel-Hamid MS. , et al. Mutations in ADAR1, IFIH1, and RNASEH2B presenting as spastic paraplegia. Neuropediatrics 2014; 45 (06) 386-393
2 Travaglini L, Aiello C, Stregapede F. , et al. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes. Neurogenetics 2018; 19 (02) 111-121
3 Crow YJ, Leitch A, Hayward BE. , et al. Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Goutières syndrome and mimic congenital viral brain infection. Nat Genet 2006; 38 (08) 910-916
4 Livingston JH, Crow YJ. Neurologic phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Goutières syndrome and beyond. Neuropediatrics 2016; 47 (06) 355-360
5 Rice G, Patrick T, Parmar R. , et al. Clinical and molecular phenotype of Aicardi-Goutieres syndrome. Am J Hum Genet 2007; 81 (04) 713-725