Homozygous frameshift mutation of SPG11 as a cause of progressive flaccid paralysis, ataxia and dysphagia

Journal of Clinical Neuroscience : Official Journal of the Neurosurgical Society of Australasia
Kate LilleySimon A Broadley

Abstract

Hereditary spastic paraplegias (HSP) are phenotypically and genotypically diverse. We describe a unique case of autosomal recessive HSP (ARHSP) diagnosed at age 44 in a patient previously described as having "spinal muscular ataxia" [sic]. Predominant lower motor neuron findings and lack of clinical spasticity reduced suspicion for HSP in early life. The identified SPG11 mutation was novel and the presentation was atypical for HSP in general and SPG11 disease specifically.

References

Dec 14, 2011·Neurobiology of Aging·Hussein DaoudGuy A Rouleau
Feb 28, 2014·European Journal of Neurology : the Official Journal of the European Federation of Neurological Societies·A RomagnoloP Cavalla
May 17, 2014·Brain : a Journal of Neurology·Viviana PensatoCaterina Mariotti
Nov 12, 2015·Brain : a Journal of Neurology·Celeste MontecchianiAntonio Orlacchio
Feb 10, 2016·Annals of Neurology·Rebecca SchüleLudger Schöls
May 25, 2016·Brain : a Journal of Neurology·Eleanna KaraHenry Houlden
Feb 15, 2017·Movement Disorders : Official Journal of the Movement Disorder Society·Matthis Synofzik, Rebecca Schüle
Jun 2, 2015·Movement Disorders Clinical Practice·Kishore R KumarCarolyn M Sue

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