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High Frequency of Pathogenic Rearrangements in SPG11 and Extensive Contribution of Mutational Hotspots and Founder Alleles

Günther, Sven ; Elert-Dobkowska, Ewelina ; Soehn, Anne S. ; Hinreiner, Sophie ; Yoon, Grace ; Heller, Raoul ; Hellenbroich, Yorck ; Hübner, Christian A. ; Ray, Peter N. ; Hehr, Ute ; Bauer, Peter ; Sulek, Anna ; Beetz, Christian



Abstract

Biallelic loss-of-function mutations in SPG 11 cause a wide spectrum of recessively inherited, neuro-degenerative disorders including hereditary spastic paraplegia (HSP), amyotrophic lateral sclerosis, and Charcot-Marie-Tooth disease. By comprehensive screening of three large cohorts of HSP index patients, we identified 83 alleles with "small" mutations and 13 alleles that carry large genomic ...

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