Objective: To describe a case of HSP presenting as spastic paraparesis with extrapyramidal features

Background: Hereditary spastic paraparesis is a heterogeneous group of neurodegenerative disorders characterized by progressive spasticity alone (uncomplicated) or with other neurological and non-neurologic symptoms (complicated or complex). Autosomal recessive HSP is usually related to mutations in SPG11 gene. We describe a genetically proven case of HSP with an unusual phenotype of spasticity with dopa-responsive dystonia (DRD) caused by spatacsin gene (SPG11) mutation

Method: 22-year-old woman presented with complaints of dragging of the right leg followed by the left, atypical posturing of the right foot and gradually worsening gait impairment over a six-year period. She noticed asymmetric onset gradually progressive bilateral lower limb weakness when she was 16 years old. She defined right foot posturing as intermittent, involuntary inversion of the right foot with toe extension and diurnal variation of symptoms. These symptoms progressed over six years and the patient had trouble rising from a crouching position and gait impairment owing to stiffness and riding of her knees into each other. On examination, she had grade-I spasticity in her upper limbs and grade-III spasticity in her lower limbs. All DTR was brisk, with sustained ankle clonus. After receiving a trial of levodopa/carbidopa (300/75 mg/day) per day, she reported significant improvement in gait and there were no falls. Her MRI showed thinning of the corpus callosum and T2 FLAIR hyperintensities at the tips of the frontal horns of bilateral lateral ventricles.

Results: Brain MRI showed thinning of the corpus callosum with revealed T2 FLAIR hyperintensities at tips of frontal horns of bilateral lateral ventricles. WES identified homozygous frameshift variant c.2716delC in Exon 15 of the SPG11 gene that results in the amino acid substitution p.Gln906fs*15

Conclusion: This case brings to light the clinical phenotypic diversity of HSP, which is linked to SPG11 and expands the genotypic range of disorders that look like DRD. An early trial of levodopa can improve the quality of life of patients with SPG11 mutations

References: 1. McDermott CJ, White K, Bushby K, Shaw PJ. Hereditary spastic paraparesis: a review of new developments. Journal of Neurology, Neurosurgery & Psychiatry. 2000 Aug 1;69(2):150-60.
2. Wijemanne S, Shulman JM, Jimenez‐Shahed J, Curry D, Jankovic J. SPG 11 mutations associated with a complex phenotype resembling dopa‐responsive dystonia. Movement disorders clinical practice. 2015 Jun;2(2):149-54.
3. Kim JS, Kim JM, Kim YK, Kim SE, Yun JY, Jeon BS. Striatal dopaminergic functioning in patients with sporadic and hereditary spastic paraplegias with parkinsonism. Journal of Korean Medical Science. 2013 Nov 1;28(11):1661-6.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/hereditary-spastic-paraparesis-due-to-spg11-gene-mutation-presenting-as-dopa-responsive-dystonia/