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Published in: Neurological Sciences 3/2022

01-03-2022 | Spastic Paraplegia | Letter to the Editor

A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum

Authors: Haitian Nan, Tomoko Mizuno, Atsuko Arisaka, Kenshi Sei, Yoshihisa Takiyama

Published in: Neurological Sciences | Issue 3/2022

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Dear Editor, …
Appendix
Available only for authorised users
Literature
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go back to reference Garel C, Cont I, Alberti C et al (2011) Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol 32:1436–1443CrossRef Garel C, Cont I, Alberti C et al (2011) Biometry of the corpus callosum in children: MR imaging reference data. AJNR Am J Neuroradiol 32:1436–1443CrossRef
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go back to reference Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://doi.org/10.1038/gim.2015.30 Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405–424. https://​doi.​org/​10.​1038/​gim.​2015.​30
Metadata
Title
A p.Glu420Gln mutation in SPAST is associated with infantile onset spastic paraplegia complicated by cerebella ataxia, epilepsy, peripheral neuropathy, and hypoplasia of the corpus callosum
Authors
Haitian Nan
Tomoko Mizuno
Atsuko Arisaka
Kenshi Sei
Yoshihisa Takiyama
Publication date
01-03-2022
Publisher
Springer International Publishing
Published in
Neurological Sciences / Issue 3/2022
Print ISSN: 1590-1874
Electronic ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-022-05879-2

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