A case of spastic paraplegia with SPG4 and SPG3 associated mutations].

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

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova 2023

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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 4th 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.

Citation

G E Rudenskaya, A S Kuchina, V A Kadnikova, O P Ryzhkova. A case of spastic paraplegia with SPG4 and SPG3 associated mutations]. Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova. 2023;123(5):171-176