Abstract

    Open Access Case Study Article ID: AMM-3-118

    Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction

    Carolina Lopes*, Fernando Silveira, Goreti Nadais and Miguel Leão

    Background: Spastic Paraplegia 26 (SPG26) is a complex type of spastic paraplegia caused by B4GALNT1 gene pathogenic variants, and is characterized by childhood/adolescence onset of progressive spastic paraplegia associated with mild to moderate cognitive impairment and developmental delay, dysarthria, cerebellar ataxia, and peripheral neuropathy. 

    Results: We report four additional cases, from three Portuguese families, of SPG26, demonstrating high phenotypic heterogeneity, both inter-familial and intra-familial. Using neurophysiological studies, we describe hearing dysfunction as a feature of SPG26. 

    Conclusions: SPG26 is rare and familiarity with the typical presentation may be helpful to the diagnosis and allow an increased awareness of this disorder.

    Keywords:

    Published on: Dec 18, 2019 Pages: 14-17

    Full Text PDF Full Text HTML DOI: 10.17352/amm.000018
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