PANK activators for the treatment of pantothenate kinase-associated neurodegeneration
NeurotherapeuticsJessica Regan, Ph.D. +2 more
doaj +1 more source
Continuous Positive Airway Pressure Therapy in a Patient with Pantothenate-Kinase-Associated Neurodegeneration. [PDF]
J Clin Neurol, 2019 Guk HS, Koo DL, Nam H.
europepmc +1 more source
Looking Deep into the Eye-of-the-Tiger in Pantothenate Kinase-Associated Neurodegeneration. [PDF]
AJNR Am J Neuroradiol, 2018 Lee JH +4 more
europepmc +1 more source
Tongue Protrusion Dystonia in Pantothenate Kinase-Associated Neurodegeneration
Pediatric Neurology, 2020 Tongue protrusion dystonia is an uncommon focal dystonia involving the lingual muscles. Causes of tongue protrusion dystonia include tardive dystonia, posthypoxic dystonia, neuroacanthocytosis, pantothenate kinase-associated neurodegeneration, and Lesch-Nyhan syndrome.We summarize three children with pantothenate kinase-associated neurodegeneration and
Foad Kazemi +2 more
exaly +5 more sources
Pantothenate kinase‐associated neurodegeneration is not a synucleinopathy [PDF]
Neuropathology and Applied Neurobiology, 2013 A. Li, R. Paudel, R. Johnson, R. Courtney, A. J. Lees, J. L. Holton, J. Hardy, T. Revesz and H. Houlden (2013) Neuropathology and Applied Neurobiology39, 121–131Pantothenate kinase‐associated neurodegeneration is not a synucleinopathyAims: Mutations in the pantothenate kinase 2 gene (PANK2) are responsible for the most common type of neurodegeneration ...
R Paudel +2 more
exaly +6 more sources
Novel histopathologic findings in molecularly-confirmed pantothenate kinase-associated neurodegeneration [PDF]
Brain, 2011 Pantothenate kinase-associated neurodegeneration is a form of neurodegeneration with brain iron accumulation, characterized by a progressive movement disorder and prominent iron deposition in the globus pallidus.
Allison Gregory +2 more
exaly +2 more sources
Clinical rating scale for pantothenate kinase‐associated neurodegeneration: A pilot study [PDF]
Movement Disorders, 2017 Pantothenate kinase-associated neurodegeneration is a progressive neurological disorder occurring in both childhood and adulthood. The objective of this study was to design and pilot-test a disease-specific clinical rating scale for the assessment of ...
Alejandra Darling +2 more
exaly +3 more sources
Deep brain stimulation for pantothenate kinase‐associated neurodegeneration: A meta‐analysis
Movement Disorders, 2019 Background: Pantothenate kinase-associated neurodegeneration is a rare autosomal-recessive disorder, characterized by progressive neurodegeneration associated with brain iron accumulation.
Darrin J Lee +2 more
exaly +1 more source
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model [PDF]
Brain, 2014 Pantothenate kinase-associated neurodegeneration, caused by mutations in the PANK2 gene, is an autosomal recessive disorder characterized by dystonia, dysarthria, rigidity, pigmentary retinal degeneration and brain iron accumulation.
Dario Brunetti +2 more
exaly +2 more sources