Objective: To describe a rare case of SPG11 gene mutation associated complex hereditary spastic paraplegia with partially levodopa responsive parkinsonism

Background: Hereditary Spastic Paraplegia (HSP) is neurodegenerative disorder affecting primarily the long axonal fibers of the corticospinal tracts. Clinically they are classified into pure or complicated HSPs which have multiple accompanied features.  The exact clinical profile of SPG11 gene mutation associated complex HSP is still being described in literature. Majority of SPG11 gene mutation patients present with spastic paraplegia with cognitive involvement. Only three other case reports with associated partially levodopa responsive parkinsonism in patients with complex HSP associated with SPG11 mutation have been reported in literature

Methods: Case:A 33 year old male presented with history of regression with onset in second decade of life. He had normal birth and developmental milestones .At 15 years he developed gradually progressive spastic paraparesis associated with slowness and rigidity, followed by cognitive impairment with stereotypical movements and complex motor tics and became wheel chair bound by 25 years of age. There was no family history of similar symptoms or consanguinity.All the metabolic workup  and ophthalmologic evaluation was normal. MRI brain revealed mild thinning of corpus callosum and mild periventricular white matter changes.  He was partially responsive to levodopa at doses of up to 475 mg/day .

Results: All the metabolic workup  and ophthalmologic evaluation was normal. MRI brain revealed mild thinning of corpus callosum and mild periventricular white matter changes.  He was partially responsive to levodopa at doses of up to 475 mg/day .The diagnosis of hereditary spastic paraplegia was confirmed by genome sequencing which showed mutation in exon 11 of SPG 11 gene. 

Conclusions: Complex HSP due to SPG11 mutation should be also be considered in differential diagnosis of patients with young onset levodopa responsive Parkinsonism with spasticity and cognitive decline.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/spg-11-gene-mutation-associated-autosomal-recessive-hereditary-spastic-paraplegia-presenting-with-partially-levodopa-responsive-parkinsonism-stereotypy-and-cognitive-decline/