西亚试剂：Exome Sequencing Links Corticospinal Motor Neuron Disease t

发布时间：2025-09-16

Exome Sequencing Links Corticospinal Motor Neuron Disease to Common Neurodegenerative Disorders

Gaia Novarino1，*，？， Ali G. Fenstermaker1，*， Maha S. Zaki3，*， Matan Hofree2， Jennifer L. Silhavy1， Andrew D. Heiberg1， Mostafa Abdellateef1， Basak Rosti1， Eric Scott1， Lobna Mansour4， Amira Masri5， Hulya Kayserili6， Jumana Y. Al-Aama7， Ghada M. H. Abdel-Salam3， Ariana Karminejad8， Majdi Kara9， Bulent Kara10， Bita Bozorgmehri8， Tawfeg Ben-Omran11， Faezeh Mojahedi12， Iman Gamal El Din Mahmoud4， Naima Bouslam13， Ahmed Bouhouche13， Ali Benomar13， Sylvain Hanein14， Laure Raymond14， Sylvie Forlani14， Massimo Mascaro1， Laila Selim4， Nabil Shehata15， Nasir Al-Allawi16， P.S. Bindu17， Matloob Azam18， Murat Gunel19， Ahmet Caglayan19， Kaya Bilguvar19， Aslihan Tolun20， Mahmoud Y. Issa3， Jana Schroth1， Emily G. Spencer1， Rasim O. Rosti1， Naiara Akizu1， Keith K. Vaux1， Anide Johansen1， Alice A. Koh1， Hisham Megahed3， Alexandra Durr14，21， Alexis Brice14，21，22， Giovanni Stevanin14，21，22，23， Stacy B. Gabriel24， Trey Ideker2， Joseph G. Gleeson1，？

Hereditary spastic paraplegias (HSPs) are neurodegenerative motor neuron diseases characterized by progressive age-dependent loss of corticospinal motor tract function. Although the genetic basis is partly understood， only a fraction of cases can receive a genetic diagnosis， and a global view of HSP is lacking. By using whole-exome sequencing in combination with network analysis， we identified 18 previously unknown putative HSP genes and validated nearly all of these genes functionally or genetically. The pathways highlighted by these mutations link HSP to cellular transport， nucleotide metabolism， and synapse and axon development. Network analysis revealed a host of further candidate genes， of which three were mutated in our cohort. Our analysis links HSP to other neurodegenerative disorders and can facilitate gene discovery and mechanistic understanding of disease.

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