کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5632240 1581075 2017 4 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Case reportLongitudinal assessments in discordant twins with SMA
موضوعات مرتبط
علوم زیستی و بیوفناوری علم عصب شناسی علوم اعصاب تکاملی
پیش نمایش صفحه اول مقاله
Case reportLongitudinal assessments in discordant twins with SMA
چکیده انگلیسی


- The paper reports discordant phenotypes in twins affected by SMA.
- The sister developed type 2 SMA while her brother had a typical type 1 SMA.
- Weak tendon reflexes were the presenting signs in the presymptomatic girl.

We report longitudinal clinical and neurophysiological assessments in twins affected by spinal muscular atrophy (SMA) with discordant phenotypes. The boy had the homozygous deletion of SMN1, a typical type 1 SMA course, and died at the age of eight months. His twin sister, asymptomatic at the time of the diagnosis in her brother, had the same genetic defect but she developed clinical and electrophysiological signs of type 2 SMA. The reduction of tendon reflexes was the first clinical sign at the age of 4 months, followed within few weeks, by a mild decrement in the amplitude of the compound motor action potentials. After the age of 9 months, she showed a sudden clinical and electrophysiological deterioration. Among molecular tests, we determined SMN2 copy number, SMN2 and Plastin 3 transcript levels in peripheral blood, and observed no relevant differences between twins.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuromuscular Disorders - Volume 27, Issue 10, October 2017, Pages 890-893
نویسندگان
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