Article
Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders.
Science (New York, N.Y.) - 31 Jan 2014
Novarino Gaia, Fenstermaker Ali G, Zaki Maha S, Hofree Matan, Silhavy Jennifer L, Heiberg Andrew D, Abdellateef Mostafa, Rosti Basak, Scott Eric, Mansour Lobna, Masri Amira, Kayserili Hulya, Al-Aama Jumana Y, Abdel-Salam Ghada M H, Karminejad Ariana, Kara Majdi, Kara Bulent, Bozorgmehri Bita, Ben-Omran Tawfeg, Mojahedi Faezeh, El Din Mahmoud Iman Gamal, Bouslam Naima, Bouhouche Ahmed, Benomar Ali, Hanein Sylvain, Raymond Laure, Forlani Sylvie, Mascaro Massimo, Selim Laila, Shehata Nabil, Al-Allawi Nasir, Bindu P S, Azam Matloob, Gunel Murat, Caglayan Ahmet, Bilguvar Kaya, Tolun Aslihan, Issa Mahmoud Y, Schroth Jana, Spencer Emily G, Rosti Rasim O, Akizu Naiara, Vaux Keith K, Johansen Anide, Koh Alice A, Megahed Hisham, Durr Alexandra, Brice Alexis, Stevanin Giovanni, Gabriel Stacy B, Ideker Trey, Gleeson Joseph G
Abstract excerpt
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...
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