کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
1916800 1047336 2006 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study
کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی سالمندی
پیش نمایش صفحه اول مقاله
First report of two Taiwanese siblings with sialidosis type I: A 10-year follow-up study
چکیده انگلیسی

We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstrated myoclonic jerk-related cortical activities and the somatosensory evoked potential studies revealed giant cortical components. During the 10-year follow-up, the brain magnetic resonance images of the younger brother remained normal, whereas they showed mild cerebellar atrophy in the older sister. Macular cherry red spots were absent in both siblings. However, visual evoked potential revealed progressively prolonged latencies of P100 bilaterally, which was consistent with progressive deterioration of the siblings' visions. DNA analysis showed that the siblings had a homozygous missense point mutation c.544A→G (Ser182Gly) in the exon 3 of the α-N-acetyl-neuraminidase (NEU1) gene. The mutation is predicted to cause a decreased sialidase activity but the mutant sialidase can still be targeted to the lysosomes, which may correlate with the mild clinical phenotypes and absent cherry red spots in the siblings.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Journal of the Neurological Sciences - Volume 247, Issue 1, 15 August 2006, Pages 65–69
نویسندگان
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