Pantothenate kinase-associated neurodegeneration is not a synucleinopathy.

ABSTRACT:

Aims

Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration with brain iron accumulation (NBIA), known as pantothenate kinase-associated neurodegeneration (PKAN). Historically, NBIA is considered a synucleinopathy with numerous reports of NBIA cases with Lewy bodies and Lewy neurites and some cases reporting additional abnormal tau accumulation. However, clinicopathological correlations in genetically proven PKAN cases are rare. We describe the clinical, genetic and neuropathological features of three unrelated PKAN cases.

Methods

All three cases were genetically screened for the PANK2 gene mutations using standard Sanger polymerase chain reaction sequencing. A detailed neuropathological assessment of the three cases

SUBMITTER: Li A 

PROVIDER: S-EPMC3712463 | biostudies-literature | 2013 Feb

REPOSITORIES: biostudies-literature