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dc.contributor.authorLilley, K
dc.contributor.authorBhuta, S
dc.contributor.authorSabet, A
dc.contributor.authorBroadley, SA
dc.date.accessioned2020-10-13T00:54:13Z
dc.date.available2020-10-13T00:54:13Z
dc.date.issued2020
dc.identifier.issn0967-5868
dc.identifier.doi10.1016/j.jocn.2020.09.004
dc.identifier.urihttp://hdl.handle.net/10072/398304
dc.description.abstractHereditary 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.
dc.languageEnglish
dc.language.isoeng
dc.publisherElsevier
dc.relation.ispartofpagefrom90
dc.relation.ispartofpageto91
dc.relation.ispartofjournalJournal of Clinical Neuroscience
dc.relation.ispartofvolume81
dc.subject.fieldofresearchClinical Sciences
dc.subject.fieldofresearchNeurosciences
dc.subject.fieldofresearchcode1103
dc.subject.fieldofresearchcode1109
dc.titleHomozygous frameshift mutation of SPG11 as a cause of progressive flaccid paralysis, ataxia and dysphagia
dc.typeJournal article
dc.type.descriptionC2 - Articles (Other)
dcterms.bibliographicCitationLilley, K; Bhuta, S; Sabet, A; Broadley, SA, Homozygous frameshift mutation of SPG11 as a cause of progressive flaccid paralysis, ataxia and dysphagia, Journal of Clinical Neuroscience, 2020, 81, pp. 90-91
dc.date.updated2020-10-13T00:20:36Z
gro.hasfulltextNo Full Text
gro.griffith.authorBroadley, Simon
gro.griffith.authorBhuta, Sandeep
gro.griffith.authorSabet, Arman


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