Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene

Rudenskaya G.E.; Shestopalova E.A.; Kadnikova V.A.; Shchagina O.A.

doi:https://doi.org/10.17116/jnevro2022122031117

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Shestopalova E.A.

Research Centre for Medical Genetics

Kadnikova V.A.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-1245-4881

Shchagina O.A.

Research Centre for Medical Genetics

Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene

Authors:

Rudenskaya G.E., Shestopalova E.A., Kadnikova V.A., Shchagina O.A.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(3): 117‑120

DOI: 10.17116/jnevro2022122031117

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To cite this article:

Rudenskaya GE, Shestopalova EA, Kadnikova VA, Shchagina OA. Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene. S.S. Korsakov Journal of Neurology and Psychiatry. 2022;122(3):117‑120. (In Russ.)
https://doi.org/10.17116/jnevro2022122031117

Подписка 2026 Журнал неврологии и психиатрии им. С.С. Корсакова (S.S. Korsakov Journal of Neurology and Psychiatry)

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Abstract:

A case of spastic paraplegia type 4 (SPG4) due to SPAST p.Arg499His mutation de novo in a child, aged 2 years 8 months, is presented. The differences of this first Russian case with the mutation and of a number of reported cases from typical SPG4 are very early onset, severe disabling spasticity and additional signs, cognitive disturbances in particular; SPAST mutations de novo are also infrequent. Specific patterns point to the relationship between genotype and phenotype. Methods of exome sequencing are particularly informative in atypical cases difficult for clinical diagnostics.

Keywords:

spastic paraplegia SPG4

SPAST gene

p.Arg499His mutation

atypical signs

genotype-phenotype relation

Authors:

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Shestopalova E.A.

Research Centre for Medical Genetics

Kadnikova V.A.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-1245-4881

Shchagina O.A.

Research Centre for Medical Genetics

Received:

27.10.2021

Accepted:

08.11.2021

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References:

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