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. 2013 Sep;260(9):2414-6.
doi: 10.1007/s00415-013-7044-6. Epub 2013 Jul 24.

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

Conceição Bettencourt, Huw R Morris, Andrew B Singleton, John Hardy, Henry Houlden

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

Conceição Bettencourt et al. J Neurol. 2013 Sep.
No abstract available

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Figures

Fig. 1
Fig. 1
a Pedigree of a UK family with spastic paraplegia. The arrow points to the proband. Black and white symbols indicate affected and unaffected individuals, respectively. b Electropherograms illustrating the novel KIAA0196 missense variant (c.677T > C, p.I226T) identified in our family. c Sequence alignment of WASH complex subunit strumpellin, which is encoded by the KIAA0196 gene, showing the conservation between species in the mutated position
See this image and copyright information in PMC

References

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    1. Freeman C, Seaman MN, Reid E. The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function. Biochim Biophys Acta. 2013;1832:160–173. doi: 10.1016/j.bbadis.2012.10.011. - DOI - PMC - PubMed

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