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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Annals of Musculoskeletal Medicine - Peertechz Publications,
2019-12-18.
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| LEADER | 00000 am a22000003u 4500 | ||
|---|---|---|---|
| 001 | peertech__10_17352_amm_000018 | ||
| 042 | |a dc | ||
| 100 | 1 | 0 | |a Carolina Lopes |e author |
| 700 | 1 | 0 | |a Fernando Silveira |e author |
| 700 | 1 | 0 | |a Goreti Nadais |e author |
| 700 | 1 | 0 | |a Miguel Leão |e author |
| 245 | 0 | 0 | |a Expanding the phenotype of spastic paraplegia 26: Report of 4 cases with hearing dysfunction |
| 260 | |b Annals of Musculoskeletal Medicine - Peertechz Publications, |c 2019-12-18. | ||
| 520 | |a <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> | ||
| 540 | |a Copyright © Carolina Lopes et al. | ||
| 546 | |a en | ||
| 655 | 7 | |a Case Study |2 local | |
| 856 | 4 | 1 | |u https://doi.org/10.17352/amm.000018 |z Connect to this object online. |