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Juvenile Tay Sachs Disease Due to Compound Heterozygous Mutation in Hex-A Gene, with Early Sign of Bilateral Tremors.

作者信息

Sheth Jayesh, Mohapatra Ira, Patra Gangotri, Bhavsar Riddhi, Patel Chandni, Shah Siddharth, Nair Aadhira

机构信息

Department of Biochemical and Molecular Genetics, FRIGE's Institute of Human Genetics, FRIGE House, Jodhpur Gam Road, Satellite, Ahmedabad, India.

Consultant Pediatric Neurologist, Royal Institute of Child Neurosciences, Vastrapur, Ahmedabad, Gujarat, India.

出版信息

Ann Indian Acad Neurol. 2022 May-Jun;25(3):502-505. doi: 10.4103/aian.aian_577_21. Epub 2022 Jan 5.

DOI:10.4103/aian.aian_577_21
PMID:35936646
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC9350779/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d6/9350779/4d6097f03170/AIAN-25-502a-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d6/9350779/163982d46bfb/AIAN-25-502a-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d6/9350779/4d6097f03170/AIAN-25-502a-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d6/9350779/163982d46bfb/AIAN-25-502a-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/31d6/9350779/4d6097f03170/AIAN-25-502a-g002.jpg

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Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility.对来自349个巴基斯坦家庭的1019名个体进行基因组检测，诊断率高且具有临床实用性。
NPJ Genom Med. 2020 Oct 5;5:44. doi: 10.1038/s41525-020-00150-z. eCollection 2020.
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Genotype-phenotype correlation of gangliosidosis mutations using in silico tools and homology modeling.
使用计算机工具和同源建模对神经节苷脂贮积症突变进行基因型-表型关联分析
Mol Genet Metab Rep. 2019 Jul 17;20:100495. doi: 10.1016/j.ymgmr.2019.100495. eCollection 2019 Sep.
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Early juvenile Tay-Sachs disease with atypical symptoms.具有非典型症状的早发性青少年型泰-萨克斯病。
Pediatr Int. 2019 Jun;61(6):611-613. doi: 10.1111/ped.13848.
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Temporary Efficacy of Pyrimethamine in Juvenile-Onset Tay-Sachs Disease Caused by 2 Unreported HEXA Mutations in the Indian Population.乙胺嘧啶对印度人群中由2种未报道的己糖胺酶A基因突变引起的青少年型泰-萨克斯病的短期疗效。
Child Neurol Open. 2017 Jan 17;4:2329048X16687887. doi: 10.1177/2329048X16687887. eCollection 2017 Jan-Dec.
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Appl Clin Genet. 2015 Jan 21;8:19-25. doi: 10.2147/TACG.S49628. eCollection 2015.
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