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Pantothenate kinase-associated neurodegeneration: Clinical aspects, diangnosis and treatments
Authors
E. Alizadeh
A.H. Habibi
+4 more
K. Moradiankokhdan
M. Orooji
B. Razmeh
S. Razmeh
Publication date
1 January 2018
Publisher
Abstract
Pantothenate Kinase-Associated, Neurodegeneration (PKAN) is an autosomal, recessive disorder characterized by a, mutation in the PANK2 gene. The clinical, presentation may range from only speech, disorder to severe generalized dystonia, spasticity, Visual loss, dysphagia and, dementia. The hallmark of this disease is, eyes of the tiger signs in the medial aspect, of bilateral globus pallidus on T2-weighted, MRI that is a hyperintense lesion surrounded, by hypointensity. Common treatments, for PKAN disease include anticholinergics, botulinum toxin, Oral and Intrathecal, baclofen, Iron chelation drugs and surgical, procedures such as ablative pallidotomy or, thalamotomy, Deep brain stimulation., There are many controversies about the, pathogenesis and treatment of this disease, and in recent years interesting studies have, been done on PKAN disease and other similar, diseases. This review summarizes the, clinical presentation, etiology, imaging, modalities and treatment. © S. Razmeh et al
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eprints Iran University of Medical Sciences
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Last time updated on 10/10/2019