J Clin Neurol.  2009 Dec;5(4):192-194. 10.3988/jcn.2009.5.4.192.

A Novel PANK2 Mutation in a Patient with Atypical Pantothenate-Kinase-Associated Neurodegeneration Presenting with Adult-Onset Parkinsonism

• Seo JH
• Song SK
• Lee PH

• KMID: 2287649
• DOI: http://doi.org/10.3988/jcn.2009.5.4.192

Abstract

BACKGROUND
Pantothenate-kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder that is characterized by progressive extrapyramidal signs, visual loss, and cognitive impairment. PKAN is caused by mutations in the pantothenate kinase gene (PANK2), which is located on chromosome 20p13 and encodes pantothenate kinase, the key regulatory enzyme in coenzyme-A biosynthesis. CASE REPORT: In this report we describe a case of atypical PKAN with a novel PANK2 mutation, presenting with a 10-year history of postural tremor involving both hands. Upon neurological examination, the patient's face was masked and he spoke in a monotonous voice. The patient presented with mild bradykinesia and rigidity that involved all of the extremities. Horizontal saccadic eye movements were slow and fragmented. Brain MRI revealed a typical "eye-of-the-tiger" sign. A mutation analysis revealed three PANK2 mutations: two in exon 3 (Asp 378Gly and Leu385CysfsX13) and one in exon 4 (Arg440Pro). CONCLUSIONS: Parkinsonism is not an unusual presenting symptom in patients with atypical PKAN, and so it is important for physicians to consider PKAN in the differential diagnosis of patients presenting with young-onset parkinsonism.

Keyword

pantothenate-kinase-associated neurodegeneration; neurodegeneration with brain iron accumulation; pantothenate kinase; adult-onset parkinsonism

MeSH Terms

Brain
Diagnosis, Differential
Exons
Extremities
Hand
Humans
Hypokinesia
Masks
Neurodegenerative Diseases
Neurologic Examination
Parkinsonian Disorders
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)
Saccades
Tremor
Voice
Phosphotransferases
Phosphotransferases (Alcohol Group Acceptor)

Figure

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  Fig. 1 Axial fluid attenuation inversion recovery MRI showing low signal intensity with a medial area of bilateral high signal intensity in the globus pallidus, presenting the "eye-of-the-tiger" sign.

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  Fig. 2 PANK2 mutation analysis revealed three mutations: a substitution at nucleotide 1133 (A>G) and insertion of threonine at nucleotides 1154-1155 in exon 3, and a substitution at nucleotide 1319 (G>C) in exon 4.

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