A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Rudenskaya G.E.; Kuchina A.S.; Kadnikova V.A.; Ryzhkova O.P.

doi:https://doi.org/10.17116/jnevro2023123051171

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Kuchina A.S.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-3153-7041

Kadnikova V.A.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-1245-4881

Ryzhkova O.P.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0003-1285-9093

A case of spastic paraplegia with SPG4 and SPG3 associated mutations

Authors:

Rudenskaya G.E., Kuchina A.S., Kadnikova V.A., Ryzhkova O.P.

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Journal: S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(5): 171‑176

DOI: 10.17116/jnevro2023123051171

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To cite this article:

Rudenskaya GE, Kuchina AS, Kadnikova VA, Ryzhkova OP. A case of spastic paraplegia with SPG4 and SPG3 associated mutations. S.S. Korsakov Journal of Neurology and Psychiatry. 2023;123(5):171‑176. (In Russ.)
https://doi.org/10.17116/jnevro2023123051171

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

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Abstract:

A rare case of autosomal dominant spastic paraplegia in a 36-year-old female with two reported earlier mutations of most common spastic paraplegia forms: SPG4 (mutation p.Cys28Leufs*20 in SPAST gene) and SPG3 (mutation p.Val405Met in ATL1 gene) is presented. The mutations detected by massively parallel sequencing (MPS) panel were inherited from affected mother and clinically unaffected father, respectively. The proband, her 61-year-old mother and deceased grandfather had ‘uncomplicated’ paraplegia with onset in 4^th decade. The 67-year-old father had no even minimal subclinical signs of the disease and no affected relatives, detection of his low-penetrating ATL1 mutation was unexpected. MPS methods are the most informative for identifying a patient and/or family members with a combined hereditary neurological pathology, especially a combination of similar forms of heterogeneous groups, such as spastic paraplegia.

Keywords:

spastic paraplegia

SPG4

SPG3

SPAST and ATL1 mutations

independent coincidence

incomplete penetrance

Authors:

Rudenskaya G.E.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-8244-9367

Kuchina A.S.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-3153-7041

Kadnikova V.A.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0002-1245-4881

Ryzhkova O.P.

Bochkov Research Centre for Medical Genetics

ORCID: 0000-0003-1285-9093

Received:

23.01.2023

Accepted:

01.03.2023

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References:

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