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

J Clin Neurosci. 2020 Nov:81:90-91. doi: 10.1016/j.jocn.2020.09.004. Epub 2020 Sep 29.

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.

Keywords: Ataxia; Corpus collosum; Dysphagia; Hereditary spastic paraplegia; SPG11.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Ataxia / diagnostic imaging
  • Ataxia / etiology
  • Ataxia / genetics*
  • Deglutition Disorders / diagnostic imaging
  • Deglutition Disorders / etiology
  • Deglutition Disorders / genetics*
  • Disease Progression
  • Frameshift Mutation / genetics*
  • Homozygote
  • Humans
  • Male
  • Muscle Hypotonia / diagnostic imaging
  • Muscle Hypotonia / etiology
  • Muscle Hypotonia / genetics*
  • Paralysis / etiology
  • Paralysis / genetics*
  • Proteins / genetics*
  • Spastic Paraplegia, Hereditary / complications
  • Spastic Paraplegia, Hereditary / diagnostic imaging
  • Spastic Paraplegia, Hereditary / genetics*

Substances

  • Proteins
  • SPG11 protein, human

Supplementary concepts

  • Spastic paraplegia 11, autosomal recessive