Abstract
Neuro-acanthocytosis (NA), an umbrella term for a group of rare diseases characterized by misshapen erythrocytes (acanthocytes) and neuronal multisystem pathology. Clinical features include choreatic movement disorder, psychiatric manifestations and cognitive decline, and additional features including myopathy, axonal neuropathy and seizures. Herein we report two cases - a 42-year-old woman and a 28-year-old man - from Turkey presented with heterogenous courses of neuro-acanthocytosis.
Keywords
References
- Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
- Peikert A, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018; 61 (11); 699-705.
- Baeza VA, Dobson-Stone C, Rampoldi L, et al. Chorea-Acanthocytosis. GeneReviews [serial on the internet]. 2014 [cited 20 Feb 2019]. Avaible from https://www.ncbi.nlm.nih.gov/books/NBK1387/
- Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.
Abstract
Nöroakantostoz, yanlış biçimli eritrositler ve nöronal çoklu sistem patolojisi ile karakterize nadir görülen bir grup hastalık için kullanılan şemsiye bir terimdir. Klinik özellikleri koreik hareket bozuklukları, psikiyatrik bulgular ve bilişsel gerilemeye ek olarak myopati, aksonal nöropati ve nöbetleri içerir. Burada Türkiye’den, nöroakantozun farklı klinik seyirleri ile prezente olan iki olgu -42 yaşında bir kadın ve 28 yaşında bir erkek- sunulmuştur.
Keywords
References
- Jung H, Danek A,Walker RH. Neuroacanthocytosis Syndromes. Orphanet J Rare Dis. 2011; 6: 68.
- Peikert A, Danek A, Hermann A. Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet. 2018; 61 (11); 699-705.
- Baeza VA, Dobson-Stone C, Rampoldi L, et al. Chorea-Acanthocytosis. GeneReviews [serial on the internet]. 2014 [cited 20 Feb 2019]. Avaible from https://www.ncbi.nlm.nih.gov/books/NBK1387/
- Walker RH. Management of Neuroacanthocytosis Syndromes. Tremor Other Hyperkinet Mov (N Y). 2015; 5: 346.
Details
| Primary Language | English |
|---|---|
| Subjects | Health Care Administration |
| Journal Section | Case Reports |
| Authors | |
| Publication Date | March 13, 2020 |
| Submission Date | January 26, 2019 |
| Published in Issue | Year 2020 |