Pınar EDEM, Mert KARAKAYA, Brunhilde WİRTH, Tuncay Derya OKUR, Uluç YİŞ

Giant axonal neuropathy: A differential diagnosis of consideration

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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