Homozygous frameshift mutation of SPG11 as a cause of progressive flaccid paralysis, ataxia and dysphagia. (November 2020)

• Record Type: Journal Article
• Authors: Lilley, Kate; Bhuta, Sandeep; Sabet, Arman; Broadley, Simon A
• Is Part Of: Journal of clinical neuroscience. Volume 81(2020)
• Page Start: 90
• Page End: 91
• Publication Date: 2020-11
• Subjects: Hereditary spastic paraplegia -- SPG11 -- Ataxia -- Dysphagia -- Corpus collosum; Brain -- Surgery -- Periodicals; Neurosciences -- Periodicals; Nervous system -- Surgery -- Periodicals; Brain -- surgery -- Periodicals; Neurosurgical Procedures -- Periodicals; Neurosciences -- Periodicals; Electronic journals; 616.8
• DOI: 10.1016/j.jocn.2020.09.004
• Languages: English
• ISSNs: 0967-5868

Abstract

Highlights: Autosomal recessive HSP (ARHSP) diagnosed at age 44, predominant lower motor neuron findings, lack of clinical spasticity. Novel SPG11 mutation. Atypical for HSP presentation. Atypical SPG11 phenotype. 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.