Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction
<p>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,...
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| Главные авторы: | , , , |
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Annals of Musculoskeletal Medicine - Peertechz Publications,
2019-12-18.
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| Итог: | <p>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. </p><p>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. </p><p>Conclusions: SPG26 is rare and familiarity with the typical presentation may be helpful to the diagnosis and allow an increased awareness of this disorder.</p> |
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| DOI: | 10.17352/amm.000018 |