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‘Ear of the lynx’ sign: hereditary spastic paraplegia (HSP) type 11
  1. Jayaram Saibaba,
  2. Sunil K Narayan,
  3. Ramkumar Sugumaran
  1. Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamil Nadu, India
  1. Correspondence to Dr Ramkumar Sugumaran, Neurology, Jawaharlal Institute of Postgraduate Medical Education and Research, Puducherry, Tamil Nadu, India; ramkumar.sugumaran{at}gmail.com

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The hereditary spastic paraplegias (HSPs) comprise an uncommon group of monogenic diseases that includes over 79 types of genetic disorders, which can be autosomal dominant, autosomal recessive, X-linked or mitochondrial. Based on the clinical phenotype, Harding classified them as pure HSP and complicated HSP. The most frequent type is HSP-11 caused by a mutant spatacsin gene. The ‘ear of lynx’ sign is a characteristic MR brain scan feature, manifesting as focal thinning in the genu fibres of the corpus callosum; this occurs in only two recessively-inherited HSPs (types 11 and 15).

A 22-year-old man had gradually progressive bilateral lower limb symptoms of stiffness for 4 years and weakness for 1 year. There was no history of trauma or bladder and bowel involvement. His elder brother had similar complaints. On examination, there was mild cognitive impairment, spastic dysarthria, bilateral lower …

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Footnotes

  • Contributors Author roles:(1) Research project: A. Conception, B. Organisation, C. Execution; (2) Statistical analysis: A. Design, B. Execution, C. Review and Critique; (3) Manuscript: A. Writing of the first draft, B. Review and critique. JS: 1A, 1B, 1C, 3A, 3B. NSK: 1A, 1B, 1C, 3A, 3B. RS: 1A, 1B, 1C, 3A, 3B.

  • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

  • Competing interests None declared.

  • Provenance and peer review Not commissioned. Externally peer reviewed by Sam Shribman, London, UK, and Sian Ebden, Cardiff, UK.