We describe a case who previously had been diagnosedwith and treated for chronic inflammatory demyelinating polyradiculoneuropathy(CIDP); after re-evaluation, genetic testing was received, and the patient wasdiagnosed with GAN.
📌 3 Maddede Bu Makale
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Amaç & Hipotez:Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affectingboth the central and peripheral nervous systems progressively.
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Temel Bulgular & Veri:The recessivemutations of the GAN gene are responsible for the disease.
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Sonuç & Katkı:We describe a case who previously had been diagnosedwith and treated for chronic inflammatory demyelinating polyradiculoneuropathy(CIDP); after re-evaluation, genetic testing was received, and the patient wasdiagnosed with GAN.
🔬Tür:Araştırma Makalesi
📍Kapsam:Genişletilmiş Akademik Örneklem
⚙️Değişkenler:Alan Parametreleri
Özet
Giant axonal neuropathy (GAN) is a rare neurodegenerative disorder affectingboth the central and peripheral nervous systems progressively. The recessivemutations of the GAN gene are responsible for the disease. Although someclinical aspects, like coarse and kinky hair, are suggestive, other diseases mayinterfere with diagnosis. We describe a case who previously had been diagnosedwith and treated for chronic inflammatory demyelinating polyradiculoneuropathy(CIDP); after re-evaluation, genetic testing was received, and the patient wasdiagnosed with GAN.
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Bu Makaleye Atıf Yap
EDEM, P., KARAKAYA, M., WİRTH, B., OKUR, T. D., YİŞ, U. (2019). Giant axonal neuropathy: A differential diagnosis of consideration. Turkish Journal of Pediatrics, Cilt: 61 - Sayı: 2, 275–278. https://ajindex.com/articles/412062
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