Dataset Information

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17.

ABSTRACT:

Abstract

Autosomal dominant spinocerebellar ataxia type 17 (SCA17) is known to have various manifestations. Previously, ataxia and autonomic dysfunction have been reported with this disorder, making an overlap with multiple systemic atrophy (MSA). However, respiratory complications, especially stridor during sleep, have not yet been reported with SCA17, in contrast to MSA, in which stridor occurs during sleep and is associated with an increased risk of death. Herein, we report a patient with SCA17, in whom stridor developed during sleep.

SUBMITTER: Kim KJ

PROVIDER: S-EPMC6329553 | biostudies-literature | 2019 Jan

REPOSITORIES: biostudies-literature

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Publications

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17.

Kim Kyeong Joo KJ Kim Jong-Min JM Bae Yun Jun YJ Yoon In-Young IY Song Yoo Sun YS Kim Sang Eu SE

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 20190115 1

<h4>Abstract</h4>Autosomal dominant spinocerebellar ataxia type 17 (SCA17) is known to have various manifestations. Previously, ataxia and autonomic dysfunction have been reported with this disorder, making an overlap with multiple systemic atrophy (MSA). However, respiratory complications, especially stridor during sleep, have not yet been reported with SCA17, in contrast to MSA, in which stridor occurs during sleep and is associated with an increased risk of death. Herein, we report a patient ...[more]

PMID: 30621838

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Project description:Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disease caused by a CAG repeat expansion in the TATA-box binding protein gene (TBP). The disease has a varied age at onset and clinical presentation. It is distinct from other SCAs for its association with dementia, psychiatric symptoms, and some patients presenting with chorea. For this reason, it is also called Huntington's disease-like 4 (HDL-4). Here we examine the distribution of SCA17 allele repeat sizes in a United Kingdom-based cohort with ataxia and find that fully penetrant pathogenic alleles are very rare (5 in 1,316 chromosomes; 0.38%). Phenotype-genotype correlation was performed on 30 individuals and the repeat structure of their TBP genes was examined. We found a negative linear correlation between total CAG repeat length and age at disease onset and, unlike SCA1, there was no correlation between the longest contiguous CAG tract and age at disease onset. We were unable to identify any particular phenotypic trait that segregated with particular CAG/CAA repeat tract structures or repeat lengths. One individual within the cohort was homozygous for variable penetrance range SCA17 alleles. This patient had a similar age at onset to heterozygotes with the same repeat sizes, but also presented with a rapidly progressive dementia. A pair of monozygotic twins within the cohort presented 3 years apart with the sibling with the earlier onset having a more severe phenotype with dementia and chorea in addition to the ataxia observed in their twin. This appears to be a case of variable expressivity, possibly influenced by other environmental or epigenetic factors. Finally, there was an asymptomatic father with a severely affected child with an age at onset in their twenties. Despite this, they share the same expanded allele repeat sizes and sequences, which would suggest that there is marked difference in the penetrance of this 51-repeat allele. We therefore propose that the variable penetrance range extend from 48 repeats to incorporate this allele. This study shows that there is variability in the presentation and penetrance of the SCA17 phenotype and highlights the complexity of this disorder.

Dataset Information

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17.

Abstract

Publications

Occurrence of Stridor During Sleep in a Patient With Spinocerebellar Ataxia Type 17.

Similar Datasets

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