期刊
PARKINSONISM & RELATED DISORDERS
卷 18, 期 2, 页码 191-193出版社
ELSEVIER SCI LTD
DOI: 10.1016/j.parkreldis.2011.10.001
关键词
Sepiapterin reductase; Parkinsonism; Hypotonia
资金
- Bogazici University [5708]
- Istanbul University [513/2007]
- Turkish Academy of Sciences
We report two siblings that presented hypotonia and very early-onset parkinsonism. Homozygosity mapping using SNP genome scan data identified a candidate locus that was 12.2 Mega base pairs. By exome sequencing, we found a homozygous five-nucleotide deletion (c.448_452delAGAAC) in gene Sepiapterin Reductase (SPR). The mutation is predicted to lead to premature translational termination. Sepiapterin reductase deficiency (SRD) is a recently recognized dopa-responsive dystonia. Our findings show that SRD can manifest as early-onset parkinsonism, widening the spectrum of the disease phenotype and adding to the genetic heterogeneity of the disease. (C) 2011 Elsevier Ltd. All rights reserved.
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