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Typical pantothenate kinase-associated neurodegeneration caused by compound heterozygous mutations in PANK2 gene in a Chinese patient: a case report and literature review.
Tao, Yilun; Zhao, Chen; Han, Dong; Wei, Yiju; Wang, Lihong; Song, Wenxia; Li, Xiaoze.
Afiliación
  • Tao Y; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
  • Zhao C; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
  • Han D; Medical Genetic Center, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
  • Wei Y; School of Life Sciences, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.
  • Wang L; Medical Science and Technology Innovation Center, Shandong First Medical University and Shandong Academy of Medical Sciences, Jinan, Shandong, China.
  • Song W; Department of Pediatrics, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
  • Li X; Obstetrics Department, Changzhi Maternal and Child Health Care Hospital, Changzhi, Shanxi, China.
Front Neurol ; 14: 1170557, 2023.
Article en En | MEDLINE | ID: mdl-37188304
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic neurodegenerative disorder with brain iron accumulation characterized as dysarthria, spasticity, cognitive impairment, parkinsonism, and retinopathy. PKAN is caused by biallelic mutations in the mitochondrial pantothenate kinase 2 (PANK2) gene. Herein, we report a 4-year-old patient with PKAN from a Han Chinese family, who presented with developmental regression, progressive inability to walk, and limb tremors. Neuroimaging demonstrated "eye-of-the-tiger" sign. Whole exome sequencing (WES) identified compound heterozygous mutations of c.1213T>G (p.Tyr405Asp) and c.1502T>A (p.Ile501Asn) in PANK2 gene. In addition, a review of all known PANK2 variants observed in reported PKAN patients was conducted, to improve understanding of the genotype-phenotype associations that occur in PKAN patients.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Tipo de estudio: Prognostic_studies / Risk_factors_studies Idioma: En Revista: Front Neurol Año: 2023 Tipo del documento: Article País de afiliación: China Pais de publicación: Suiza