Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

doi:10.1093/brain/aww307

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Article

Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

Brain : a journal of neurology - 1 Feb 2017

Estrada-Cuzcano Alejandro, Martin Shaun, Chamova Teodora, Synofzik Matthis, Timmann Dagmar, Holemans Tine, Andreeva Albena, Reichbauer Jennifer, De Rycke Riet, Chang Dae-In, van Veen Sarah, Samuel Jean, Schöls Ludger, Pöppel Thorsten, Mollerup Sørensen Danny, Asselbergh Bob, Klein Christine, Zuchner Stephan, Jordanova Albena, Vangheluwe Peter, Tournev Ivailo, Schüle Rebecca

Abstract excerpt

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in...

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PMID: 28137957
DOI: 10.1093/brain/aww307
PMCID: PMC5278306

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