ICNC Abstracts, ICNC 2018

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A Rare Case Of Early Onset Hereditary spastic paraplegia caused by AFG3L2 and SPG7 mutations
Piyush Kumar Anshu, Dr Viraj Sanghi

Last modified: 2018-09-09

Abstract


 

A male child born out of non consanguinous marraige with normal birth and developemental history till one and half year of age presented with progressive spasticity of both limbs broad based ataxic gait, dysmetria, abnormal scanning speech, opthalmoplegia and nystagmus. MRI of brain was suggestive of hyperintense T2 lesion in the globus pallidus, putamen and pons. Opthalmic evaluation revealed temporal disc dystrophy and macular dystrophy. Gentic work up reveled mutation in AFG3L2 and SPG7 genes

The hereditary spastic paraplegias (HSP) are a clinically heterogeneous group of disorders characterized by progressive lower extremity spasticity and weakness. Paraplegin is a mitochondrial protein and subunit of the mitochondrial matrix protease (m-AAA protease), which is mutated in SPG7 and causes an autosomal recessive HSP. AFG3L2 encodes another subunit of the m-AAA protease which is highly expressed in Purkinje cells. Pathogenic variants generally cause juvenile to early-adult onset autosomal dominant spinocerebellar ataxia, SCA28. AFG3L2 and paraplegin complex and interact with each other and can modulate disease presentation.


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