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Tytuł pozycji:

Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.

Tytuł :
Complexity of the Genetics and Clinical Presentation of Spinocerebellar Ataxia 17.
Autorzy :
Nethisinghe S; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Lim WN; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Ging H; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Zeitlberger A; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Abeti R; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Pemble S; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Sweeney MG; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Labrum R; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Cervera C; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.; MRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom.
Rosser E; Department of Clinical Genetics, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom.
Limousin P; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Kennedy A; Chelsea and Westminster Hospital, London, United Kingdom.
Lunn MP; Department of Neuroimmunology, UCL Queen Square Institute of Neurology, London, United Kingdom.
Bhatia KP; Sobell Department of Motor Neuroscience and Movement Disorders, UCL Queen Square Institute of Neurology, London, United Kingdom.
Wood NW; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Hardy J; Department of Neurodegenerative Disease, UCL Queen Square Institute of Neurology, London, United Kingdom.; The Reta Lila Weston Institute of Neurological Studies, UCL Queen Square Institute of Neurology, London, United Kingdom.
Polke JM; Neurogenetics Unit, National Hospital for Neurology and Neurosurgery, London, United Kingdom.
Veneziano L; Istituto di Farmacologia Traslazionale - National Research Council, Rome, Italy.
Brusco A; Department of Medical Sciences, University of Turin, Turin, Italy.; Medical Genetics Unit, Città della Salute e della Scienza University Hospital, Turin, Italy.
Davis MB; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
Giunti P; Ataxia Centre, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, United Kingdom.
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Źródło :
Frontiers in cellular neuroscience [Front Cell Neurosci] 2018 Nov 23; Vol. 12, pp. 429. Date of Electronic Publication: 2018 Nov 23 (Print Publication: 2018).
Typ publikacji :
Journal Article
Język :
English
Imprint Name(s) :
Original Publication: Lausanne, Switzerland : Frontiers Research Foundation, 2007-
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Contributed Indexing :
Keywords: CAG repeat expansions; PolyQ; SCA17; ataxia; genetic counseling; neurodegeneration
Entry Date(s) :
Date Created: 20181212 Latest Revision: 20201001
Update Code :
20210209
PubMed Central ID :
PMC6265347
DOI :
10.3389/fncel.2018.00429
PMID :
30532692
Czasopismo naukowe
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.

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