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Journals / Türk Nöroloji Dergisi / 2016 / Cilt: 22 - Sayı: 2

Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case

Progresif Miyoklonik Epilepsi ve NEU1 Mutasyonu: Farklı Bir Fenotipik Olgu

Candan GÜRSES
Zeliha MATUR
Ebru Nur VANLI YAVUZ
Anna Elina LEHESJOKİ
Güneş ALTIOKKA
Ayşen GÖKYİĞİT
Mikko MUONA
Nerses BEBEK
Betül BAYKAN
Pages
84–87
Publication Date
2022-11-05
DOI
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

The diagnosis is also crucial for genetic consultancy of the family.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene.
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Key Findings & Data:In type 1 sialidosis, a "cherry-red spot" can be observed in fundoscopic examinations.
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Conclusion & Impact:The diagnosis is also crucial for genetic consultancy of the family.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Sialidosis are autosomal recessive inherited disorders caused by a mutation on the NEU1 gene. In type 1 sialidosis, a "cherry-red spot" can be observed in fundoscopic examinations. In this study, a woman aged 37 years without "cherry-red spot" on ophthalmologic examination is reported to draw attention to a new phenotypic variation. Although an ophthalmologic examination was normal, for patients with consanguineous parents with progressive ataxia, drug-resistant epilepsy and myoclonus must be investigated for progressive myoclonic epilepsy and genetic analysis for sialidosis must be performed. The diagnosis is also crucial for genetic consultancy of the family.

Özet

Siyalidozlar, NEU1 geninde mutasyon sonucu gelişen otozomal resesif geçişli bir grup lizozomal depo hastalığıdır. Tip 1 siyalidozda tipik olarak fundus muayenesinde "cherry-red spot" görülür. Bu çalışmada "cherry-red spot" bulgusu olmadığı halde genetik incelemeler sonrasında NEU1 mutasyonu saptanan 37 yaşında kadın olgu, siyalidoz tablolarındaki fenotipik çeşitliliğe dikkat çekmek amacıyla sunulmuştur. Anne baba akrabalığı olan, ilerleyici ataksi, dirençli epilepsi ve miyoklonileri olan hastalarda progresif miyoklonik epilepsiler yönünden diğer etiyolojilerin yanı sıra fundus muayenesi normal olmasına rağmen siyalidoz da genetik açıdan araştırılmalıdır. Doğru tanı aileye danışmanlık verilmesi açısından önemlidir.

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Cite This Article

GÜRSES, C., MATUR, Z., YAVUZ, E. N. V., LEHESJOKİ, A. E., ALTIOKKA, G., GÖKYİĞİT, A., MUONA, M., BEBEK, N., BAYKAN, B. (2022). Progressive Myoclonic Epilepsy and NEU1 Mutation: A Different Phenotypic Case. Türk Nöroloji Dergisi, Cilt: 22 - Sayı: 2, 84–87. https://ajindex.com/articles/636898

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