Clinical heterogeneity and genotype-phenotype correlations in hereditary spastic paraplegia because of Spatacsin mutations (SPG11).

European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies
Coro Paisán-RuizHenry Houlden

Abstract

Autosomal recessive hereditary spastic paraplegia (ARHSP) with thin corpus callosum is a distinct and usually severe form of complex hereditary spastic paraplegia classified as SPG11. Recently mutations on SPG11 gene (KIAA1840), which is localized to chromosome 15q13-q15, were shown to cause the majority of SPG11 cases. We analysed the 40 coding exons of this gene in the probands from eight families with complex ARHSP, four of these families had a thin corpus callosum and two has mild thinning. Three families were identified with novel mutations in the SPG11 gene. One family was of Asian origin with a homozygous nonsense mutation and had a very severe phenotype but only very mild thinning of the corpus callosum. In the other two English families the parents were unrelated and the mutations were compound heterozygotes. In these two families the phenotype was mild and both probands had a thin corpus callosum. Given the probable mechanism of action of the mutations in the Spatacsin gene, we discuss the probable genotype phenotype correlations in these families. This study confirms the frequent occurrence of Spatacsin mutations in complex ARHSP with genotype phenotype effects and exposes the spectrum of clinical heterogeneity in SP...Continue Reading

References

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Citations

Jul 19, 2012·Acta Neuropathologica·Henry Houlden, Andrew B Singleton
Nov 12, 2015·Brain : a Journal of Neurology·Celeste MontecchianiAntonio Orlacchio
Nov 3, 2010·Ophthalmology·Bernard PuechSabine Defoort-Dhellemmes
Mar 5, 2016·Applied & Translational Genomics·Cristina Castro-FernándezMaria-Jesús Sobrido
Feb 6, 2009·American Journal of Medical Genetics. Part B, Neuropsychiatric Genetics : the Official Publication of the International Society of Psychiatric Genetics·Hanna OrlénNiklas Dahl
Jul 4, 2012·Molecular Genetics and Metabolism·Adeline VanderverCamilo Toro
May 25, 2016·Brain : a Journal of Neurology·Eleanna KaraHenry Houlden
Aug 22, 2016·Journal of Neurology·Andreea ManoleHenry Houlden
Feb 3, 2009·Movement Disorders : Official Journal of the Movement Disorder Society·Susanne A SchneiderJohn Hardy
Dec 18, 2008·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·F SinaC Paisán-Ruiz
Mar 8, 2011·Movement Disorders : Official Journal of the Movement Disorder Society·Arianna GuidubaldiAnna Rita Bentivoglio
Aug 28, 2014·Current Opinion in Neurology·Andreea ManoleHenry Houlden
Jan 13, 2012·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Maria Conceição PereiraIsabel Alonso
May 2, 2020·Brain : a Journal of Neurology·Tatyana PoznerBeate Winner
Jul 8, 2018·Molecular Neurodegeneration·En-Lin DongXiang Lin
Dec 24, 2018·Frontiers in Neuroscience·Tatyana PoznerBeate Winner
Apr 28, 2015·Movement Disorders Clinical Practice·Subhashie WijemanneJoseph Jankovic

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