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Case Report
A case of SPG11-associated hereditary spastic paraparesis identified by the “ear of the lynx sign”
1 Sr. Consultant Neurologist & Academic Coordinator, Institute of Neurosciences, Indraprastha Apollo Hospitals, New Delhi 110076, India
2 DrNB Neurology, Indraprastha Apollo Hospitals, New Delhi 110076, India
3 Attending Consultant Neurology, Institute of Neurosciences, Indraprastha Apollo, Hospitals, New Delhi 110076, India
4 Attending Consultant Neurology, Indraprastha Apollo Hospital, New Delhi 110076, India
5 Clinical Fellow (Neurology), Indraprastha Apollo Hospital, New Delhi 110076, India
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Pushpendra Nath Renjen
C-85, Anand Niketan, New Delhi 110021,
India
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Article ID: 100022N06PR2025
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Renjen PN, Priyaranjan M, Chaudhari DM, Goswami A, Saeed N. A case of SPG11-associated hereditary spastic paraparesis identified by the “ear of the lynx sign”. Edorium J Neurol 2025;10(2):1–6.ABSTRACT
Hereditary spastic paraparesis (HSP) is a genetically and clinically heterogeneous group of disorders with the common feature of progressively worsening spasticity of the lower extremities, often with variable degrees of weakness. Spastic paraplegia type 11 (SPG11) mutations are the most frequent form of autosomal recessive hereditary spastic paraplegia (ARHSP) which represents the complicated form of HSP. Additional features may include cognitive dysfunction, extrapyramidal dysfunction, cerebellar dysfunction or peripheral neuropathy among other features. Imaging findings include a thin corpus callosum although this is not unique to SPG11-related HSP. A characteristic abnormality in these patients affecting the region of the forceps minor of the corpus callosum has been described as the “ears of the lynx” sign. We present a case of a man in his 20s who presented with gradually progressive lower limb spasticity along with weakness, with a history of non-progressive childhood onset action tremors of the right hand. Magnetic resonance imaging (MRI) findings revealed a thin corpus callosum with “ears of the lynx” sign thereby raising the possibility of ARHSP. Electrodiagnostic studies revealed electromyography evidence of both lower motor neuron (LMN) and upper motor neuron (UMN) changes in bulbar and multiple spinal segments with modest fasciculations, scanty fibrillations, and severe spastic recruitment. Whole exome sequencing revealed a compound heterozygous variant in the SPG11 gene thereby confirming the diagnosis of SPG11-related HSP. This case outlines the importance of “ears of the lynx” sign in diagnosis of SPG11-related HSP and simultaneous presence of additional LMN features in SPG11-related HSP, thereby creating a diagnostic overlap with familial amyotrophic lateral sclerosis.
Keywords: HSP, SPG11, ARHSP
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Author Contributions
Pushpendra Nath Renjen - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Mayank Priyaranjan - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Dinesh Mohan Chaudhari - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Avinash Goswami - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Nayaab Saeed - Substantial contributions to conception and design, Acquisition of data, Analysis of data, Interpretation of data, Drafting the article, Revising it critically for important intellectual content, Final approval of the version to be published
Guaranter of SubmissionThe corresponding author is the guarantor of submission.
Source of SupportNone
Consent StatementWritten informed consent was obtained from the patient for publication of this article.
Data AvailabilityAll relevant data are within the paper and its Supporting Information files.
Conflict of InterestAuthors declare no conflict of interest.
Copyright© 2025 Pushpendra Nath Renjen et al. This article is distributed under the terms of Creative Commons Attribution License which permits unrestricted use, distribution and reproduction in any medium provided the original author(s) and original publisher are properly credited. Please see the copyright policy on the journal website for more information.
