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Journals / İstanbul Medical Journal / 2015 / Cilt: 16 - Sayı: 3

A Case of Neuroacanthocytosis with Cerebellar Syndrome

Serebellar Sendromlu Bir Nöroakantositoz Olgusu

Vildan YAYLA
Nejla SÖZER TOPÇULAR
Filiz AZMAN
Murat ÇABALAR
Pages
127–129
Publication Date
2022-10-19
DOI
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AI Summary & Key Takeaways

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

We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Neuroacanthocytosis is a rare slowly progressive neurodegenerative disease accompanied with movement disorders, epilepsy, cognitive im- pairment, multisystem psychiatric symptoms.
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Key Findings & Data:It is usually investigated in patients presenting with movement disorders, and diagnosis is made based on clinical presentation and the presence of acanthocytes in the peripheral blood.
💡
Conclusion & Impact:We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Neuroacanthocytosis is a rare slowly progressive neurodegenerative disease accompanied with movement disorders, epilepsy, cognitive im- pairment, multisystem psychiatric symptoms. It is usually investigated in patients presenting with movement disorders, and diagnosis is made based on clinical presentation and the presence of acanthocytes in the peripheral blood. We aimed to present a case of neuroacanthocytosis with prominent cerebellar findings.

Özet

Nöroakantositoz, hareket bozuklukları, epilepsi, kognitif tutulum, psikiyatrik bulguların eşlik ettiği multisistem, yavaş ilerleyici, seyrek görülen nörodejeneratif bir hastalıktır. Klinik tablo ve periferik kanda akantositlerin varlı- ğıyla tanısı konulabilen nöroakantositoz, genellikle hareket bozukluklarıyla seyreden hastalarda araştırılmaktadır. Biz burada, serebellar bulguların ön planda olduğu bir nöroakantositoz olgusu sunmayı amaçladık.

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Cite This Article

YAYLA, V., TOPÇULAR, N. S., AZMAN, F., ÇABALAR, M. (2022). A Case of Neuroacanthocytosis with Cerebellar Syndrome. İstanbul Medical Journal, Cilt: 16 - Sayı: 3, 127–129. https://ajindex.com/articles/552172

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References (3)

  1. Rafalowska J, Drac H, Jamrozik Z. Neuroacanthocytosis. Review of lit- erature and case report. Folia Neuropathol 1996; 34: 178-83.
  2. Stevenson VL, Hardie RJ. Acanthocytosis and neurological disorders. J Neurol 2001; 248: 87-94. [CrossRef] Rampoldi L, Danek A, Monoca AP. Clinical features and molecular bases of neuroacanthocytosis. J Mol Med 2002; 80: 475-91. [CrossRef] Feinberg TE, Cianci CD, Morrow JS, Pehta JC, Redman CM, Huima T, Koroshetz WJ. Diagnostic tests for choreoacanthocytosis. Neurology 1991; 41: 1000-6. [CrossRef] Sorrentino G, De Renzo A, Miniello S, Nori O, Bonavita V. Late appear- ance of acanthocytes during the course of choreaacanthocytosis. J Neurol Sci 1999; 163: 175-8. [CrossRef] Rubio JP, Danek A, Stone C, Chalmers R, Wood N, Verellen C, et al. Chorea-acanthocytosis: genetic linkage to chromosome 9q21. Am J Hum Genet 1997; 61: 899-908. [CrossRef] Walker RH, Morgello S, Davidoff-Feldman B, Melnick A, Walsh MJ, Shashidharan P, et al. Autosomal dominant chorea-acanthocytosis with polyglutamine-containing neuronal inclusions. Neurology 2002; 58: 1031-7. [CrossRef] Hardie RJ, Pulln HW, Harding AE, Owen JS, Pires M, Daniels GI, et al. Neuroacanthocytosis. A clinical, hematological and pathological study of 19 cases. Brain 1991; 14: 13-49.
  3. Adam Z, Geoff S. Neuroacanthocytosis. Practical Neurol 2004; 4: 298- 301. [CrossRef] Okamoto K, Ito J, Furusawa T, Sakai TK, Tokiguchi S, Homma, A, et al. CT and MR findings of neuroacanthocytosis. J Comput Asist Tomogr 1991; 21: 221-2. [CrossRef] 129