2026-04-29T14:27:48Z https://www.peertechzpublications.org/oai-pmh

oai:www.peertechzpublications.org:10.17352/amm.000018 2019-12-18 PTZ.AMM:VOL3

Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction Carolina Lopes Fernando Silveira Goreti NadaisMiguel Leão<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.&nbsp;</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.&nbsp;</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> Annals of Musculoskeletal Medicine - Peertechz Publications 2019-12-18 Case Study https://doi.org/10.17352/amm.000018 en Copyright © Carolina Lopes et al.