Expansion of the Spinocerebellar Ataxia Type 10 (SCA10) Repeat in a Patient with Sioux Native American Ancestry

被引:26
作者
Bushara, Khalaf [1 ]
Bower, Matthew [2 ]
Liu, Jilin [3 ,4 ]
McFarland, Karen N. [3 ,4 ]
Landrian, Ivette [3 ,4 ]
Hutter, Diane [1 ]
Teive, Helio A. G. [5 ]
Rasmussen, Astrid [6 ]
Mulligan, Connie J. [7 ,8 ]
Ashizawa, Tetsuo [3 ,4 ]
机构
[1] Univ Minnesota, Dept Neurol, Med Ctr, Minneapolis, MN 55455 USA
[2] Univ Minnesota, Inst Human Genet, Med Ctr, Minneapolis, MN 55455 USA
[3] Univ Florida, Dept Neurol, Gainesville, FL 32610 USA
[4] Univ Florida, McKnight Brain Inst, Gainesville, FL USA
[5] Univ Fed Parana, Movement Disorders Unit, Neurol Serv, Hosp Clin, BR-80060000 Curitiba, Parana, Brazil
[6] Oklahoma Med Res Fdn, Arthrit & Clin Immunol Res Program, Oklahoma City, OK 73104 USA
[7] Univ Florida, Dept Anthropol, Gainesville, FL 32611 USA
[8] Univ Florida, Genet Inst, Gainesville, FL USA
基金
美国国家卫生研究院;
关键词
ATTCT REPEAT; REDUCED PENETRANCE; FREQUENCY-ANALYSIS; FAMILIES; POPULATION; DISEASE; ORIGIN; MODEL;
D O I
10.1371/journal.pone.0081342
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
Spinocerebellar ataxia type 10 (SCA10), an autosomal dominant cerebellar ataxia, is caused by the expansion of the non-coding ATTCT pentanucleotide repeat in the ATAXIN 10 gene. To date, all cases of SCA10 are restricted to patients with ancestral ties to Latin American countries. Here, we report on a SCA10 patient with Sioux Native American ancestry and no reported Hispanic or Latino heritage. Neurological exam findings revealed impaired gait with mild, age-consistent cerebellar atrophy and no evidence of epileptic seizures. The age at onset for this patient, at 83 years of age, is the latest documented for SCA10 patients and is suggestive of a reduced penetrance allele in his family. Southern blot analysis showed an SCA10 expanded allele of 1400 repeats. Established SNPs surrounding the SCA10 locus showed a disease haplotype consistent with the previously described "SCA10 haplotype". This case suggests that the SCA10 expansion represents an early mutation event that possibly occurred during the initial peopling of the Americas.
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页数:4
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