Varaico: Literature-Extracted Genetic Variants

Gene:SPG7
Variant:p.P690L
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SPG7

NM_003119.4:p.P690L

Associated Papers

Hereditary Spastic Paraplegia Type 7 With Early-Onset Parkinsonism Responsive to Subthalamic Deep Brain Stimulation.

Sachithanandan S et al.

Annals of Indian Academy of Neurology, 2025

Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.

Zhi Y et al.

Cns Neuroscience & Therapeutics, 2025

39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG7

Novel insights into tumorigenesis revealed by molecular analysis of Lynch syndrome cases with multiple colorectal tumors.

Olkinuora A et al.

Frontiers in Oncology, 2024

38725616 (PubMed )
Supplement: Table_2.xlsx › Table_S2

SPG7 mutation - Novel phenotypic presentation mimicking idiopathic Parkinson's disease.

Madhavi K et al.

Clinical Parkinsonism & Related Disorders, 2024

Parkinson's Disease, Parkinsonisms, and Mitochondria: the Role of Nuclear and Mitochondrial DNA.

Legati A et al.

Current Neurology and Neuroscience Reports, 2023

Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.

Coarelli G et al.

Neurology, 2019

Novel genotype-phenotype and MRI correlations in a large cohort of patients with SPG7 mutations.

Hewamadduma CA et al.

Neurology. Genetics, 2018

SPG7 with parkinsonism responsive to levodopa and dopaminergic deficit.

Pedroso JL et al.

Parkinsonism & Related Disorders, 2018

Early Onset Degenerative Parkinsonism - Consider SPG7 Mutation.

Bhattacharjee S et al.

Neurology India, 0

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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."