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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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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.
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