کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
4346192 1296775 2010 6 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
Molecular genetic analysis of a new form of spinocerebellar ataxia in a Chinese Han family
چکیده انگلیسی

The pathological changes of spinocerebellar ataxias (SCAs), mainly include the degeneration of the cerebellum, spinal cord and brainstem. To investigate the genotype of a three-generation Chinese Han pedigree with an autosomal dominant SCA for clinical diagnosis and genetic counseling, direct mutation test and linkage analysis were performed. SCA1–8, SCA10–14, SCA17, SCA27 and dentatorubral-pallidoluysian atrophy (DRPLA) were excluded by mutation analysis while SCA15/16/29, SCA18, SCA19/22, SCA20, SCA21, SCA23, SCA25, SCA26, SCA28 and SCA30 were excluded by linkage analysis. Therefore, we excluded all of the previously identified SCA-associated genes and loci. Interestingly, one patient (III-13) had a novel mutation of the pleckstrin homology domain containing, family G (with RhoGef domain) member 4 gene (PLEKHG4), and another patient (II-7) had a novel mutation of the β-III spectrin gene (SPTBN2) (Genbank accession numbers FJ905766 and FJ811850, respectively). However, mutations of the PLEKHG4 gene and the SPTBN2 gene are not the causes of SCAs in this family. We conclude that this autosomal dominant cerebellar ataxia family is likely a new genotype of SCAs.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 479, Issue 3, 2 August 2010, Pages 321–326
نویسندگان
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