Spinocerebellar ataxia type 10 in Chinese Han

Wang, Kang; McFarland, Karen N.; Liu, Jilin; Zeng, Desmond; Landrian, Ivette; Xia, Guangbin; Hao, Ying; Jin, Miao; Mulligan, Connie J.; Gu, Wei; Ashizawa, Tetsuo

doi:10.1212/nxg.0000000000000026

Cited by 21 publications

(21 citation statements)

References 7 publications

(14 reference statements)

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“…Interestingly, Wang, et al recently reported the presence of SCA10 in China of Han descents, and the haplotype was shared by persons from North America, Mexico, and Brazil, in agreement with this hypothesis [13]. The haplotype in our case was also identical to that in previous reports [11,13,14], further supporting the hypothesis. However, we cannot exclude the possibility that the backflow of human migration from America to East Asia through the Bering Strait [32] affected SCA10.…”

Section: Discussionsupporting

confidence: 91%

“…Additionally, population and genomic data suggest that Amerindians and Native American ancestors migrated from East Asia across the Bering Strait land bridge to North America and that their descendants spread throughout North and South America [30,31]. Interestingly, Wang, et al recently reported the presence of SCA10 in China of Han descents, and the haplotype was shared by persons from North America, Mexico, and Brazil, in agreement with this hypothesis [13]. The haplotype in our case was also identical to that in previous reports [11,13,14], further supporting the hypothesis.…”

Section: Discussionmentioning

confidence: 75%

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First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

et al. 2017

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Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment. Although the primary pathology in SCA10 in humans is reportedly the loss of Purkinje cells, brain MRI revealed frontal lobe atrophy with white matter lesions. This pathology might be associated with cognitive dysfunction, indicating that the pathological process is not limited to the cerebellum. Examination of the SNPs surrounding the SCA10 locus in the proband showed the “C-expansion-G-G-C” haplotype, which is consistent with previously reported SCA10-positive individuals. This result was consistent with the findings that the SCA10 mutation may have occurred before the migration of Amerindians from East Asia to North America and the subsequent spread of their descendants throughout North and South America.

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Section: Discussionsupporting

confidence: 91%

Section: Discussionmentioning

confidence: 75%

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

et al. 2017

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“…SCA10 cases have been primarily found in Latin American countries including Mexico, 6 Brazil, 12 Colombia, 14 Argentina, 15 Peru, 16 Bolivia, 17 and Venezuela, 18 but single cases or families of SCA10 have also been reported in the USA 13 and China. 19 The prevalence of SCA10 among autosomal-dominant spinocerebellar syndromes has been reported highest in Mexico (13.9% reported cases) 6 and ranges between 3 and 11.8% in Brazil 5 , 12 , 20 and 4.7% in Venezuela. 18 …”

Section: Introductionmentioning

confidence: 99%

Parkinson’s disease associated with pure ATXN10 repeat expansion

Schüle

McFarland

Lee

et al. 2017

npj Parkinson's Disease

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Large, non-coding pentanucleotide repeat expansions of ATTCT in intron 9 of the ATXN10 gene typically cause progressive spinocerebellar ataxia with or without seizures and present neuropathologically with Purkinje cell loss resulting in symmetrical cerebellar atrophy. These ATXN10 repeat expansions can be interrupted by sequence motifs which have been attributed to seizures and are likely to act as genetic modifiers. We identified a Mexican kindred with multiple affected family members with ATXN10 expansions. Four affected family members showed clinical features of spinocerebellar ataxia type 10 (SCA10). However, one affected individual presented with early-onset levodopa-responsive parkinsonism, and one family member carried a large repeat ATXN10 expansion, but was clinically unaffected. To characterize the ATXN10 repeat, we used a novel technology of single-molecule real-time (SMRT) sequencing and CRISPR/Cas9-based capture. We sequenced the entire span of ~5.3–7.0 kb repeat expansions. The Parkinson’s patient carried an ATXN10 expansion with no repeat interruption motifs as well as an unaffected sister. In the siblings with typical SCA10, we found a repeat pattern of ATTCC repeat motifs that have not been associated with seizures previously. Our data suggest that the absence of repeat interruptions is likely a genetic modifier for the clinical presentation of l-Dopa responsive parkinsonism, whereas repeat interruption motifs contribute clinically to epilepsy. Repeat interruptions are important genetic modifiers of the clinical phenotype in SCA10. Advanced sequencing techniques now allow to better characterize the underlying genetic architecture for determining accurate phenotype–genotype correlations.

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“…The disease-causing mutation is an ATTCT repeat expansion in intron 9 of ATXN10 , which is likely to have originated in the Han Chinese population [133]. The expanded AUUCU repeats form RNA hairpins with UCU internal loops closed by AU pairs [134].…”

Section: Rna Toxicity and Foci In Sca10mentioning

confidence: 99%

RNA toxicity and foci formation in microsatellite expansion diseases

Zhang

Ashizawa

2017

Current Opinion in Genetics & Development

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More than 30 incurable neurological and neuromuscular diseases are caused by simple microsatellite expansions consisted of 3–6 nucleotides. These repeats can occur in non-coding regions and often result in a dominantly inherited disease phenotype that is characteristic of a toxic RNA gain-of-function. The expanded RNA adopts unusual secondary structures, sequesters various RNA binding proteins to form insoluble nuclear foci, and causes cellular defects at a multisystem level. Nuclear foci are dynamic in size, shape and colocalization of RNA binding proteins in different expansion diseases and tissue types. This review sets to provide new insights into the disease mechanisms of RNA toxicity and foci modulation, in light of recent advancement on bi-directional transcription, antisense RNA, repeat-associated non-ATG translation and beyond.

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Spinocerebellar ataxia type 10 in Chinese Han

Cited by 21 publications

References 7 publications

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

First report of a Japanese family with spinocerebellar ataxia type 10: The second report from Asia after a report from China

Parkinson’s disease associated with pure ATXN10 repeat expansion

RNA toxicity and foci formation in microsatellite expansion diseases

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