Pantothenate Kinase-Associated Neurodegeneration

Hartig, Monika; Prokisch, Holger; Meitinger, Thomas; Klopstock, Thomas

doi:10.2174/138945012802002384

Cited by 14 publications

(8 citation statements)

References 87 publications

(127 reference statements)

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“…2,3,9 All of the patients with Pantothenate Kinase Associated Neurodegeneration do not have eye-of-the-tiger sign especially in the early stages of this disease and all of the patients with this sign do not have a PANK2 mutation. 10-13 This gene has seven exons, most variations are missense but duplication, deletion and splice also reported, 6,14,15 in our patients, there is a novel variation that was GAA deletion resulting in the p.E236del that bioinformatically or in silico showed it is probably pathogenic mutation but needs further investigation. Two of our patients had manifestations but the progression, and severity of the disease was different.…”

Section: Discussionsupporting

confidence: 62%

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

et al. 2019

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Pantothenate Kinase-associated Neurodegeneration (PKAN) is an autosomal recessive disorder that is caused by variation in pantothenate kinase-2 gene (PANK2) gene on chromosome 20. The common presentation of this disease includes progressive dystonia, Parkinsonism, retinopathy, cognitive impairment, and spasticity. The typical magnetic resonance imaging finding is eye of the tiger sign in globus pallidus and not pathogenic and not found in all patients. In the present study, we describe two siblings who have a novel variation of the PANK2 gene. These patients with the same genotype, have different ages at the onset of disease and also the various severity of the disease. The description of these cases helps to understand this disease, its symptoms, pathogenesis, and its treatment.

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Section: Discussionsupporting

confidence: 62%

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

et al. 2019

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“…Firstly, our patient was diagnosed by neuropsychologist with progressive cognitive decline, which isn't characteristic for PANK-1 [5][6][7]. Also, MRI hyperintense area localized bilateral in the globus pallidus, was not described by radiologist as the "eyeof-the-tiger" sign, which is pathognomonical for PKAN.…”

Section: Discussionmentioning

confidence: 99%

MPAN – Does Upper and Lower Motor Neuron Lesion Correspond with the C19orf12 Phenotype? - Case Report

Pilut¹,

Stenwak²,

Bar³

2018

Neurol Res Surg

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“…PKAN (previously called Hallervorden-Spatz syndrome) is caused by a number of different autosomal recessive mutations in the PANK2 gene and is the most common of the NBIA disorders accounting for about 50% of all cases. [446][447][448] PANK2 is one of the four isoforms of PANK, the first enzyme in the synthesis of coenzyme A (CoA) from pantothenate (vitamin B 5 ). PANK2 is the only one of the four isoforms that localizes to the mitochondria where it exists as a homodimer in the intermembrane space.…”

Section: Neurodegeneration With Brain Accumulation Disordersmentioning

confidence: 99%

Overdosing on iron: Elevated iron and degenerative brain disorders

D’Mello¹,

Kindy

2020

Exp Biol Med (Maywood)

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All cells in organisms ranging from yeast to humans utilize iron as a cofactor or structural element of proteins that function in diverse and critical cellular functions. However, deregulation of the homeostatic mechanisms regulating iron metabolism resulting in a reduction or excess of iron within the cell or outside of it can have serious effects to the health of cells and the organism. This review provides a brief overview of the molecular and cellular mechanisms regulating iron physiology, including the molecules and processes regulating iron uptake, its storage and utilization, its recycling, and its release from the cell, such that the cellular iron levels are sufficient to meet metabolic demand but below those that cause permanent damage. The major focus of review is on the pathological consequences of dysregulation of these homeostatic mechanisms, focusing on the brain. Current advances on the role of iron accumulation to the pathogenesis of rare neurological disorders caused by genetic mutations as well as to the more prevalent and age-associated neurodegenerative diseases are described. Impact statement Brain degenerative disorders, which include some neurodevelopmental disorders and age-associated diseases, cause debilitating neurological deficits and are generally fatal. A large body of emerging evidence indicates that iron accumulation in neurons within specific regions of the brain plays an important role in the pathogenesis of many of these disorders. Iron homeostasis is a highly complex and incompletely understood process involving a large number of regulatory molecules. Our review provides a description of what is known about how iron is obtained by the body and brain and how defects in the homeostatic processes could contribute to the development of brain diseases, focusing on Alzheimer’s disease and Parkinson’s disease as well as four other disorders belonging to a class of inherited conditions referred to as neurodegeneration based on iron accumulation (NBIA) disorders. A description of potential therapeutic approaches being tested for each of these different disorders is provided.

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Pantothenate Kinase-Associated Neurodegeneration

Cited by 14 publications

References 87 publications

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

A novel homozygous variation in the PANK2 gene in two Persian siblings with atypical pantothenate kinase associated neurodegeneration

MPAN – Does Upper and Lower Motor Neuron Lesion Correspond with the C19orf12 Phenotype? - Case Report

Overdosing on iron: Elevated iron and degenerative brain disorders

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