|
Hallervorden-Spatz Syndrome
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Interestingly, pantothenate supplementation, the substrate of the PANK2 enzyme, corrected all pathophysiological alterations in responder PKAN fibroblasts with low/residual PANK2 enzyme expression.
|
30804242 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate kinase-associated neurodegeneration (PKAN) is an autosomal recessive neurodegenerative disorder with brain iron accumulation (NBIA).
|
31300018 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
<b>Purpose of the study</b>: Pantothenate Kinase-associated Neurodegeneration (PKAN) is a form of Neurodegeneration with brain iron accumulation (NBIA) due to gene mutations.
|
31738088 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Genetic panel for NBIA was ordered, specifically pantothenate kinase-associated neurodegeneration (PKAN), including pantothenate kinase 2 (PanK2) - the genetic marker for the pantothenate kinase enzyme.
|
31431841 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a genetic and early-onset neurodegenerative disorder characterized by iron accumulation in the basal ganglia.
|
30141000 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study was conducted to identify the genetic mutations in a Chinese boy with PKAN, and to review all PANK2 mutations reported in Chinese cases with PKAN.
|
30681573 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate kinase-associated neurodegeneration (PKAN) is a rare genetic disorder characterised by progressive generalised dystonia and brain iron accumulation.
|
31202468 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The most prevalent form of NBIA is pantothenate kinase-associated neurodegeneration (PKAN) associated with mutations in the gene of pantothenate kinase 2 (PANK2), which is essential for coenzyme A (CoA) synthesis.
|
30173408 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate kinase-associated neurodegeneration (PKAN) is an inborn error of CoA metabolism causing dystonia, parkinsonism, and brain iron accumulation.
|
31660701 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical course of patients with pantothenate kinase-associated neurodegeneration (PKAN) before and after DBS surgery.
|
31463603 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genetic testing was performed for cases suspected for PKAN and their biological parents by direct genomic sequencing of PANK2 at Maharat Nakhon Ratchasima Hospital during 2017-2018.
|
31088771 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate kinase-associated neurodegeneration (PKAN), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA and is caused by mutations in the pantothenate kinase 2 gene (PANK2), coding for a mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway.
|
30740736 |
2019 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
The most frequently identified MSDs were Pantothenate kinase-associated neurodegeneration (PKAN) with 11 papers describing Parkinsonism, Hereditary hemochromatosis (HH) (7 papers), and Wilson's disease (6 papers).
|
30384510 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Neuroacanthocytosis (NA) syndromes are a group of rare diseases characterized by neurological disorders and misshaped spiky red blood cells (acanthocytes) including Chorea-Acanthocytosis (ChAc), McLeod syndrome (MLS), Huntington disease-like 2 (HDL 2), pantothenate kinase-associated neurodegeneration (PKAN), abeta- and hypobetalipoproteinemia and aceruloplasminemia.
|
29253590 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
There are three human PANK genes, and inactivating mutations in PANK2 lead to pantothenate kinase associated neurodegeneration (PKAN).
|
30352999 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Herein, we identified one patient with PKAN who had mutations in the PANK2 gene.
|
29962256 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Pantothenate kinase 2, the isoform localized in neuronal cell mitochondria, is dysfunctional in patients with pantothenate kinase-associated neurodegeneration.
|
29522513 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The four most common NBIA disorders include pantothenate kinase-associated neurodegeneration (PKAN) due to mutations in PANK2, phospholipase A<sub>2</sub>-associated neurodegeneration caused by mutation in PLA2G6, mitochondrial membrane protein-associated neurodegeneration from mutations in C19orf12, and beta-propeller protein-associated neurodegeneration due to mutations in WDR45.
|
29325618 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The PANK2 gene c.A650G, as well as c.T1341G, mutations may be potential mutation hotspots in children with PKAN in Mainland China.
|
29642163 |
2018 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A variation in PANK2 gene is causing Pantothenate kinase-associated Neurodegeneration in a family from Jammu and Kashmir - India.
|
28680084 |
2017 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of Neurodegeneration with Brain Iron Accumulation (NBIA) associated with mutations in the pantothenate kinase 2 gene (PANK2).
|
28456385 |
2017 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
Novel mutations in PANK2 and PLA2G6 genes in patients with neurodegenerative disorders: two case reports.
|
28821231 |
2017 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
Biomarker
|
disease |
BEFREE |
Dystonia is common in Leigh syndrome (which may be caused by 75 different genes) and in Leber hereditary ocular neuropathy (LHON) plus disease, due to mutations in mtDNA genes that encode subunits of NADH dehydrogenase, as well as in ARCA2, pantothenate kinase-associated neurodegeneration (PKAN), mitochondrial membrane protein-associated neurodegeneration (MPAN) and POLG1 mutations.
|
27476418 |
2017 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Twenty-two patients were clinically diagnosed with PKAN and screened for PANK2 mutations.
|
28113101 |
2017 |
|
Hallervorden-Spatz Syndrome
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We aim to present a case of a healthy infant born after intracytoplasmic sperm injection-in vitro fertilization (ICSI-IVF) with a preimplantation genetic diagnosis (PGD) for pantothenate kinase-associated neurodegeneration (PKAN) due to PANK2 mutation.
|
27815806 |
2017 |