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. 2024 Dec 24;103(12):e210110.
doi: 10.1212/WNL.0000000000210110. Epub 2024 Dec 2.

A Rare Genetic Cause of Spastic Paraparesis

Shakya Bhattacharjee  1 , Rekha Siripurapu  1 , Andrew Swale  1 , Yanick J Crow  1 , Christopher Kobylecki  1
Affiliations

A Rare Genetic Cause of Spastic Paraparesis

Shakya Bhattacharjee et al. Neurology. .
No abstract available

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Conflict of interest statement

Conflict of interest: Nil for any authors

Figures

Figure 1
Figure 1
(A,B) Baseline Axial T2 Magnetic resonance (MR) of head shows asymmetric leukoencephalopathy with multifocal low signal areas in basal ganglia and thalami that bloom on Gradient echo (C);(D,E) Computed tomogram confirm corresponding extensive multifocal calcification ; (F) Follow-up axial T2-weighted MR shows development of periventricular cysts (black arrowhead).
See this image and copyright information in PMC

References

    1. Jenkinson EM, Rodero MP, Kasher PR, et al. Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts. Nat Genet. 2016;48:1185–1192. doi: 10.1038/ng.3661. - DOI - PMC - PubMed
    1. Crow YJ, Marshall H, Rice GI, et al. Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum. Am J Med Genet A. 2021;185:15–25. - PubMed

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