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Carphology by A Fo Ben

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Rare genes, rare condition So what?

The genetics of hereditary spastic paraparesis (HSP) are complicated: 22 known genes are implicated, accounting for up to 30% of cases. Exome sequencing and network analysis identified 18 further genes in 55 families, providing an explanation in up to 75% of families studied. Five of these genes were validated by identification in a further cohort of 200 patients. This permits the identification of biological pathways and processes and may help filter private mutations in other unsolved families. Finally, HSP genes may overlap with genes for Alzheimer's, Parkinson's and motor neurone disease, but not for epilepsy or autism.1

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