Defective pantothenate metabolism and neurodegeneration.
In Biochem Soc Trans, 2014
PKAN (pantothenate kinase-associated neurodegeneration) manifests with damage to brain, retina and testis and is caused by mutations in PANK2, the gene encoding the mitochondrial form of pantothenate kinase, a key regulatory enzyme in CoA synthesis.
Neuroacanthocytosis in china: a review of published reports.
München, Germany. In Tremor Other Hyperkinet Mov (n Y), 2013
BACKGROUND: Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by the presence of acanthocytes and neuronal multisystem pathology, including chorea-acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington's disease-like 2 (HDL-2), and pantothenate kinase-associated neurodegeneration (PKAN).
PINK, PANK, or PARK? A clinicians' guide to familial parkinsonism.
London, United Kingdom. In Lancet Neurol, 2004
We provide a pragmatic guide for clinicians, and detail the recent developments in the genetics of Parkinson's disease that have shaped our current understanding and management of this disease and other parkinsonian disorders.