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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2018.1
- 수록면
- 45 - 48 (4page)
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초록· 키워드
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Mutations in presenilin 1 (PSEN1) are the most common cause of autosomal dominant Alzheimer’s disease. Here, we report a Canadian-Vietnamese family carrying a PSEN1 p.Met233Val mutation with an exceptionally early and severe presentation that includes a wide range of atypical symptoms, including prominent ataxia, Parkinsonism, spasticity, dystonia, action tremor, myoclonus, bulbar symptoms, seizures, hallucinations and behavioral changes. Whole-exome sequencing (WES) was performed on the affected proband after many assessments over several years proved diagnostically inconclusive. The results were analyzed using the AnnEx “Annotated Exomes” browser (http://annex.can.ubc.ca), a web-based platform that facilitates WES variant annotation and interpretation. High-throughput sequencing can be especially informative for complex neurological disorders, and WES warrants consideration as a first-line clinical test. Data analyses facilitated by web-based bioinformatics tools have great potential for novel insight, although confirmatory, diagnostically accredited Sanger sequencing is recommended prior to reporting.
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참고문헌 (10)
참고문헌 신청
Cruts M / 2012 / Locus-specific mutation databases for neurodegenerative brain diseases / Hum Mutat 33:1340~1344
Ryan NS / 2010 / Correlating familial Alzheimer's disease gene mutations with clinical phenotype / Biomark Med 4:99~112
Zheng L / 2008 / PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China / Am J Med Genet B Neuropsychiatr Genet 147B:938~944
Kircher M / 2014 / A general framework for estimating the relative pathogenicity of human genetic variants / Nat Genet 46:310~315
Ryan NS / 2016 / Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series / Lancet Neurol 15:1326~1335
Ryan NS / 2010 / Correlating familial Alzheimer's disease gene mutations with clinical phenotype / Biomark Med 4:99~112
Zheng L / 2008 / PRNP mutations in a series of apparently sporadic neurodegenerative dementias in China / Am J Med Genet B Neuropsychiatr Genet 147B:938~944
Kircher M / 2014 / A general framework for estimating the relative pathogenicity of human genetic variants / Nat Genet 46:310~315
Ryan NS / 2016 / Clinical phenotype and genetic associations in autosomal dominant familial Alzheimer's disease: a case series / Lancet Neurol 15:1326~1335
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