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  A Male Patient Showing Abnormal Gait and Dysarthria with Psychotic Symptoms [Turk J Neurol]
Turk J Neurol. 2020; 26(3): 242-246 | DOI: 10.4274/tnd.2020.88964  

A Male Patient Showing Abnormal Gait and Dysarthria with Psychotic Symptoms

Eu Jene Choi1, Dong Goo Lee2, Changxu Cui3
1Ulsan University Hospital, Ulsan University College of Medicine, Department of Neurology, Ulsan, Republic of Korea
2The University of British Columbia Faculty of Medicine, Department of Neurology, Vancouver, Canada
3Life Commune Shimousanakayama, Kinoshita Elderly Care Ltd, Chiba, Japan

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare autosomal-recessive and neurodegenerative disorder associated with progressive motor impairment and mental deterioration. The diagnosis of PKAN consists of clinical features and magnetic resonance imaging (MRI) evidence of iron accumulation in the brain, as well as evidence of mutations in the pantothenate kinase 2 (PANK2) gene. Typical clinical features of PKAN are motor symptoms including dystonia, involuntary movement, rigidity and dysarthria, as well as psychiatric symptoms such as anxiety, depression, and mental retardation. However, psychosis has not been reported often in cases of PKAN. This patient presented with anxiety, a tendency to startle easily, and rapidly deteriorating memory impairment. T2-weighted MRI of his brain indicated a specific pattern of hyperintensity within a hypointense medial globus pallidus with a mutation in the gene encoding PANK2. Components of the basal ganglia, including the globus pallidus, play a key role in motor symptoms, cognition, affect, and mood. The basal ganglia are also a central factor in the pathogenesis of psychiatric symptoms in schizophrenia. These lesions are able to aggravate various psychotic symptoms, cognitive function impairments, and mood disorders because PKAN is affected by abnormal iron deposition in the globus pallidus and substantia nigra pars reticulata.

Keywords: Pantothenate kinase-associated neurodegeneration, psychosis, neurodegenerative diseases


Eu Jene Choi, Dong Goo Lee, Changxu Cui. A Male Patient Showing Abnormal Gait and Dysarthria with Psychotic Symptoms. Turk J Neurol. 2020; 26(3): 242-246

Corresponding Author: Eu Jene Choi, South Korea


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