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Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments.
Neurology International 2018 March 31
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK 2 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 sign 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.
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