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Journals / Nöropsikiyatri Arşivi / 2016 / Cilt: 53 - Sayı: 2

Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases

Erişkin Başlangıçlı Ailesel Aleksander Hastalığı, 3 Olgunun Klinikoradyolojik Özellikleri

Ayşe Deniz ELMALI
Ümran ÇETİNÇELİK
Civan IŞLAK
Nurten Uzun ADATEPE
Feray KARAALİ SAVRUN
CENGİZ YALÇINKAYA
Pages
169–172
DOI
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AI Summary & Key Takeaways

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

Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings.
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Key Findings & Data:In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter.
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Conclusion & Impact:Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The adult-onset Alexander disease (AOAD) dramatically differs from the early onset AD with respect to clinical and neuroradiological findings. Herein we report the detailed clinical and neuroradiological findings of a Turkish family with AOAD. In all three cases, magnetic resonance imaging revealed marked atrophy of the mesencephalon, bulbus, and cervical spinal cord accompanied with signal abnormalities in the same regions along with supratentorial white matter. Basal ganglia were affected in two cases. Molecular genetic analysis revealed heterozygous mutation in the 8th exon of the glial fibrillary acidic protein gene M451I (c.1245G>A), leading to the diagnosis of AOAD in all cases.

Özet

Erişkin başlangıçlı ailesel Aleksander hastalığı, klinik ve nöroradyolojik bulgular bağlamında, erken başlangıçlı formundan oldukça farklıdır. Bu yazıda aynı aileden üç olgu ile hastalığın klinik ve nöroradyolojik bulgularını ayrıntılı olarak tartışmayı amaçladık. Her üç olgunun da kranyal MR görüntülemesinde, mezensefalonda, bulbusta ve servikal spinal kordda belirgin atrofi ile bu bölgelere ek olarak supratentoryel beyaz cevherde sinyal değişiklikleri gözlendi. İki olguda bazal ganglionların da etkilenmiş olduğu görüldü. Yapılan moleküler genetik analizde glial fibriller asidik protein (GFAP) geninin 8. eksonunda saptanan M451I (c.1245G>A) mutasyonu sonucunda her üç olgu da erişkin başlangıçlı Aleksander hastalığı tanısı aldı.

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Cite This Article

ELMALI, A. D., ÇETİNÇELİK, Ü., IŞLAK, C., ADATEPE, N. U., SAVRUN, F. K., YALÇINKAYA, C. (2016). Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases. Nöropsikiyatri Arşivi, Cilt: 53 - Sayı: 2, 169–172. https://ajindex.com/articles/292832

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