Varaico: Literature-Extracted Genetic Variants

Gene:SPAST
Variant:p.N405fs
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SPAST

NM_014946.4:p.N405fs

Associated Papers

Mild cognitive dysfunction in hereditary spastic paraplegia 4 disease related to fluorodesoxyglucose cerebral positron emission tomography.

Miroglio R et al.

Brain Communications, 2025

Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy.

Jung JH et al.

Journal of Movement Disorders, 2022

Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex.

Parodi L et al.

Brain : a Journal of Neurology, 2018

Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.

Wei QQ et al.

Parkinsonism & Related Disorders, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."