Academic Journal
A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay
| العنوان: | A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay |
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| المؤلفون: | BİLGİÇ, Başar, HANAĞASI, Haşmet Ayhan, SAMANCI, Bedia, Gurvit, Hakan, ARTAN, SEVİLHAN, Gokalp, Ebru Erzurumluoglu |
| المساهمون: | Eskişehir Osmangazi Üniversitesi,, 2521878 |
| سنة النشر: | 2021 |
| مصطلحات موضوعية: | Sağlık Bilimleri, Dahili Tıp Bilimleri, Nöroloji, Yaşam Bilimleri, Temel Bilimler, Neurology, Developmental Neuroscience, Cellular and Molecular Neuroscience, Cognitive Neuroscience, General Neuroscience, Neuroscience (miscellaneous), Sensory Systems, Human-Computer Interaction, Sinirbilim ve Davranış, Physical Sciences, Life Sciences, Health Sciences, Neurology (clinical), Yaşam Bilimleri (LIFE), Tıp, NEUROSCIENCES, Klinik Tıp (MED), Klinik Tıp, KLİNİK NEUROLOJİ |
| الوصف: | Loss-of-function mutations in the sacsin (SACS) gene lead to autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS), impairing the function of sacsin. Genotype-phenotype correlations are still unclear for the different mutations reported in ARSACS. Here, we present a Turkish ARSACS family in whom the novel homozygous frameshift mutation in SACS c.12461delC (p.Pro4154GlnfsTer20) was detected by next-generation sequencing (NGS). The index patient was admitted with progressive spastic ataxia and dysarthria. Since no common mutation in autosomal recessive (AR) cerebellar ataxias, whole gene sequencing provide an advantage to detect novel mutations and may be more effective for clinical diagnosis. |
| نوع الوثيقة: | article in journal/newspaper |
| اللغة: | English |
| تدمد: | 1590-1874 |
| Relation: | NEUROLOGICAL SCIENCES; SAMANCI B., Gokalp E. E. , BİLGİÇ B., Gurvit H., ARTAN S., HANAĞASI H. A. , "A novel SACS p.Pro4154GlnfsTer20 mutation in a family with autosomal recessive spastic ataxia of Charlevoix-Saguenay", NEUROLOGICAL SCIENCES, 2021; vv_1032021; av_c62815cd-61e5-4513-ac14-622b7d87e4c5; http://hdl.handle.net/20.500.12627/1439; https://doi.org/10.1007/s10072-021-05117-1 |
| DOI: | 10.1007/s10072-021-05117-1 |
| الاتاحة: | https://hdl.handle.net/20.500.12627/1439 https://doi.org/10.1007/s10072-021-05117-1 |
| رقم الانضمام: | edsbas.467FA666 |
| قاعدة البيانات: | BASE |
| تدمد: | 15901874 |
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| DOI: | 10.1007/s10072-021-05117-1 |