کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6004019 | 1579530 | 2014 | 14 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel mutation in the ATL1 with autosomal dominant hereditary spastic paraplegia presented as dysautonomia
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موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب سلولی و مولکولی
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چکیده انگلیسی
SPG3A, which is the second most common type of autosomal dominant hereditary spastic paraplegia (HSP), is caused by mutations in the atlastin GTPase 1 gene, ATL1. We report a case of a patient who presented as dysautonomia and had a novel splicing mutation c.35-3CÂ >Â T in exon 2 of the ATL1. Orthostatic intolerance, urinary symptoms, hyperreflexia in the biceps and knee jerk, and decreased proprioception in both limbs were observed on neurological examinations. We tested the autonomic function and performed genetic tests for the SPG4 and SPG3A forms of HSP. This case is a genetically confirmed HSP with a novel mutation in SPG3A, and extends the phenotype of SPG3A.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Autonomic Neuroscience - Volume 185, October 2014, Pages 141-143
Journal: Autonomic Neuroscience - Volume 185, October 2014, Pages 141-143
نویسندگان
Jung-Won Shin, Keun-Hwa Jung, Soon-Tae Lee, Jangsup Moon, Moon-Woo Seong, Sung Sup Park, Sang Kun Lee, Kon Chu,