Novel compound heterozygous mutations in the PANK2 gene in a Chinese patient with atypical pantothenate kinase-associated neurodegeneration

Yu Hu Zhang, Bei Sha Tang, Ai Ling Zhao, Kun Xia, Zhi Gao Long, Ji Feng Guo, Shawn K. Westaway, Susan J. Hayflick

Research output: Contribution to journalArticle

20 Scopus citations

Abstract

We investigated the presence of mutations in the pantothenate kinase (PANK2) gene in a 27-year-old male Chinese patient with atypical pantothenate kinase-associated neurodegeneration (PKAN), formerly Hallervorden-Spatz syndrome. Automated DNA sequence analyses revealed compound heterozygous mutations in the exon 3 and 5. This patient had a 10-year history of PKAN characterized by a slight tremor of the right hand when writing at onset and a slow progressive rigidity of the neck and the right arm and resting tremor in upper extremities. Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.

Original languageEnglish (US)
Pages (from-to)819-821
Number of pages3
JournalMovement Disorders
Volume20
Issue number7
DOIs
StatePublished - Jul 1 2005

Keywords

  • Hallervorden-Spatz syndrome
  • Magnetic resonance imaging
  • Neurodegeneration
  • PANK2 gene
  • PKAN
  • Pantothenate kinase-associated neurodegeneration

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

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