Results 61 to 70 of about 1,518 (174)
Phenotypic expression and founder effect of PANK2 c.1583C>T (p.T528M) mutation in Serbian pantothenate kinase-associated neurodegeneration patients [PDF]
Archives of Biological Sciences, 2019 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder characterized by dystonia, parkinsonism, cognitive and visual impairment, and iron accumulation in the brain. Many cases of PKAN result from mutations in the PANK2
Svetel Marina +7 more
doaj +1 more source
Pantothenate kinase-associated neurodegeneration (PKAN) – a rare clinical entity [PDF]
Acta Oto-Laryngologica Case Reports, 2016 AbstractPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by the absence or deficiency of PANK 2 gene located on the chromosome 20p13-p12.3. This is a motor disorder of extrapyramidal type with dystonia, rigidity, involuntary movements (choreoathetosis or tremor) and other pyramidal signs.
Appas Saha, Srushti Shabnam, Swapna N
openaire +1 more source
Advanced Science, Volume 13, Issue 17, 23 March 2026.Thanks to the appropriate structure preorganization of an N3O2‐pentadentate planar ligand, 2,6‐bis(2‐hydroxyphenylmethylaminomethyl)pyridine (H2saldamp) exhibits the strongest coordination affinity to UO22+ (log βU = 33.60) compared to ligands developed for uranium harvesting from seawater to date, as well as good separability of UO22+ from other metal
Ryuto Nabata +2 more
wiley +1 more source
Pantothenate kinase-associated neurodegeneration: Clinical aspects, diagnosis and treatments
Neurology International, 2018 Pantothenate Kinase-Associated Neurodegeneration (PKAN) is an autosomal recessive disorder characterized by a mutation in the PANK2 gene. The clinical presentation may range from only speech disorder to severe generalized dystonia, spasticity, Visual ...
Saeed Razmeh +5 more
doaj +1 more source
, 2016 Patients with DYT-1 dystonia showed abrupt decrease in movement and disability scores over time. Patients with PKAN revealed relatively higher movement and disability scores preoperatively.
Gwanhee Ehm (844308) +18 more
core +1 more source
Heliyon, 2021 Pantothenate kinase-associated neurodegeneration (PKAN) is a rare hereditary neurodegenerative disease characterized by an accumulation of iron within the brain.
Ali S. Shalash +8 more
doaj +1 more source
Novel Compound Heterozygous Mutations in the Pantothenate Kinase 2 Gene in a Korean Patient with Atypical Pantothenate Kinase Associated Neurodegeneration [PDF]
Journal of Movement Disorders, 2009 Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder that is characterized by mutations in the pantothenate kinase 2 gene (PANK2) and typical magnetic resonance imaging findings.
Sung-Hyouk Kim +6 more
doaj +1 more source
Epidemiology of progressive intellectual and neurological deterioration in UK children
Developmental Medicine &Child Neurology, Volume 68, Issue 3, Page 418-428, March 2026.This study of PIND in UK children was carried out via the British Paediatric Surveillance Unit from 1997 to 2024. It identified six cases of vCJD. 2367 children had other diagnoses explain their deterioration. There were 259 other diseases in the diagnosed group.
Christopher M. Verity +3 more
wiley +1 more source
Two forms of iron as an intrinsic contrast agent in the basal ganglia of PKAN patients [PDF]
Contrast Media & Molecular Imaging, 2012 Iron deposits in the human brain can be considered as intrinsic contrast agents for magnetic resonance imaging and are used as markers of neurodegeneration accompanied by brain‐iron accumulation. We studied one of them – panthotenate‐kinase associated neurodegeneration (PKAN) – by using relaxometry at 1.5, 3.0 and 7 T in a group of six patients; we ...
Monika, Dezortova +5 more
openaire +2 more sources
Neurodegeneration with brain iron accumulation: A case report
Dementia & NeuropsychologiaPantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive disorder caused by mutation in the PANK2 gene. It is characterized by abnormal brain iron accumulation, mainly in the globus pallidus.
Daniel Nassif +4 more
doaj +1 more source