scholarly journals Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

2021 ◽  
Vol 2021 ◽  
pp. 1-3
Author(s):  
S. Choayb ◽  
H. Adil ◽  
Daoud Ali Mohamed ◽  
N. Allali ◽  
L. Chat ◽  
...  
Keyword(s):  
Rare Disorder ◽  
Iron Accumulation ◽  
Recessive Mutation ◽  
Brain Iron ◽  
Pantothenate Kinase ◽  
Developmental Regression ◽  
Extrapyramidal Signs ◽  
T2 Weighted Images

Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation caused by a recessive mutation in pantothenate kinase 2 gene (PANK2). We present a case of an 11 year-old boy presenting extrapyramidal signs and developmental regression. T2-weighted images showed the classic eye of the tiger sign seen in pantothenate kinase-associated neurodegeneration.

Partial deficit of pantothenate kinase 2 catalytic activity in a case of tremor-predominant neurodegeneration with brain iron accumulation

2006 ◽  
Vol 21 (5) ◽  
pp. 718-722 ◽  
Author(s):  
Tsao-Wei Liang ◽  
Adam C. Truax ◽  
John Q. Trojanowski ◽  
Virginia M.-Y. Lee ◽  
Matthew B. Stern ◽  
...  
Keyword(s):  
Catalytic Activity ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Pantothenate Kinase

Alteration of the coenzyme A biosynthetic pathway in neurodegeneration with brain iron accumulation syndromes

2014 ◽  
Vol 42 (4) ◽  
pp. 1069-1074 ◽  
Author(s):  
Paola Venco ◽  
Sabrina Dusi ◽  
Lorella Valletta ◽  
Valeria Tiranti
Keyword(s):  
Biosynthetic Pathway ◽  
Coenzyme A ◽  
Iron Accumulation ◽  
Disease Genes ◽  
Common Denominator ◽  
Mitochondrial Enzyme ◽  
Brain Iron ◽  
Inborn Errors ◽  
Pantothenate Kinase ◽  
Gene Coding

NBIA (neurodegeneration with brain iron accumulation) comprises a heterogeneous group of neurodegenerative diseases having as a common denominator, iron overload in specific brain areas, mainly basal ganglia and globus pallidus. In the past decade a bunch of disease genes have been identified, but NBIA pathomechanisms are still not completely clear. PKAN (pantothenate kinase-associated neurodegeneration), an autosomal recessive disorder with progressive impairment of movement, vision and cognition, is the most common form of NBIA. It is caused by mutations in the PANK2 (pantothenate kinase 2) gene, coding for a mitochondrial enzyme that phosphorylates vitamin B5 in the first reaction of the CoA (coenzyme A) biosynthetic pathway. A distinct form of NBIA, denominated CoPAN (CoA synthase protein-associated neurodegeneration), is caused by mutations in the CoASY (CoA synthase) gene coding for a bifunctional mitochondrial enzyme, which catalyses the final steps of CoA biosynthesis. These two inborn errors of CoA metabolism further support the concept that dysfunctions in CoA synthesis may play a crucial role in the pathogenesis of NBIA.

scholarly journals Neurodegeneration Associated with Pantothenate Kinase. Case reportNeurodegeneration Associated with Pantothenate Kinase. Case report

2018 ◽  
Vol 28 (3) ◽  
pp. 190-192
Author(s):  
Fernando Antonio De Oliveira Costa ◽  
Pedro Henrique Almeida Soares ◽  
Bárbara Kraemer Ferreira ◽  
Guilherme Gago ◽  
Frederico De Lima Gibbon
Keyword(s):  
Case Report ◽  
Psychiatric Symptoms ◽  
Cerebral Atrophy ◽  
Signs And Symptoms ◽  
Common Finding ◽  
Brain Iron ◽  
Pantothenate Kinase ◽  
Stage Disease ◽  
Extrapyramidal Signs ◽  
End Stage

Neurodegeneration with Brain Iron Accumulation (NBIA) belongs to a group of disorders characterized by the predominant involvement of the basal ganglia. Patients may present psychiatric symptoms, extrapyramidal signs and cognitive decline. Few cases of this disease have been reported in Brazil. We present a typical NBIA case. This case has the classical signs and symptoms of NBIA in a woman with advanced/end-stage disease, in addition to the presence of cerebral atrophy, which is not a common finding.

Systemic Biomarkers Show Elevated Oxidative Stress and Chronic Inflammation in Two Disorders of Neurodegeneration with Brain Iron Accumulation (NBIA)

Blood ◽  
2017 ◽  
Vol 130 (Suppl_1) ◽  
pp. 943-943
Author(s):  
Michael Minkley ◽  
Nancy Sweeters ◽  
Shiva Kasravi ◽  
Jennifer Ferguson ◽  
Annie Higa ◽  
...  
Keyword(s):  
Oxidative Stress ◽  
Chronic Inflammation ◽  
Inflammatory Cytokines ◽  
Research Funding ◽  
Iron Accumulation ◽  
Plasma Samples ◽  
Brain Iron ◽  
Pantothenate Kinase ◽  
Systemic Oxidative Stress ◽  
Iron Trafficking

Abstract Background: Neurodegeneration with Brain Iron Accumulation (NBIA) is a group of rare genetic disorders characterized by progressive degenerative motor symptoms and the accumulation of iron in the basal ganglia. Pantothenate Kinase-Associated Neurodegeneration (PKAN) is a form of NBIA caused by a mutation in the PANK2 gene leading to a deficiency in pantothenate kinase. Phospholipase A2G6-Associated Neurodegeneration (PLAN) is caused by a mutation in the PLA2G6 gene resulting in impaired phospholipase activity. Current understanding of systemic changes in NBIA disorders is limited, leaving no clear diagnostic biomarkers. Monitoring the systemic changes could identify candidate biomarkers for assessing disease severity and evaluating the efficacy of new therapies. Previous studies of Parkinson's disease (PD) have found a systemic burden of increased oxidative stress and chronic inflammation accompanies the neurological symptoms of the disease. Similarly, abnormal systemic iron regulation associated with brain iron accumulation as well as damage associated with neuromuscular degeneration could lead to increased oxidative stress and a state of chronic inflammation in NBIA. Our initial investigation of a patient with PLAN1, revealed elevated levels of systemic oxidative stress. We investigated a group of PKAN patients as well as continued our investigation of a patient with PLAN to evaluate the possibility of abnormal iron trafficking, increased oxidative stress and chronic inflammation in NBIA. Our aim was to expand our investigation of circulating levels of inflammatory cytokines, oxidative stress markers and iron regulatory and metabolic proteins in NBIA patients to include a group of patients with PKAN. Methods: Plasma samples from 15 PKAN patients were collected at the UCSF Benioff Children's Hospital in Oakland, California. Similarly, a plasma sample from a patient with PLAN was collected in Campbell River, British Columbia. Plasma samples from a matched group of 15 healthy controls were also collected at the University of Victoria. All patients provided informed consent to the study. The pro-inflammatory cytokines IL-6 and TNFα as well as the anti-inflammatory cytokine IL-10 were measured by ELISA. Total levels of the lipid peroxidation product malondialdehyde (MDA) were measured using N-Methyl-Phenyl-Indole (NMPI). Free, acutely generated, MDA not bound to proteins, was measured by removing plasma proteins via a 10KD spin filtration then measuring the MDA content of resulting filtrate using NMPI. Results: The levels of MDA and Free MDA were significantly elevated in PKAN patients at baseline in comparison to controls (p = 0.05, p = 0.03). IL-6 and TNFα were slightly, but not significantly elevated at baseline compared to controls. We previously demonstrated, similar elevations of oxidative stress in our case study of an NBIA patient with PLAN1. Additionally, all three inflammatory cytokines measured for this study expansion in PLAN were higher than average levels observed in the PKAN and control groups (S ee Table 1). Further analysis of systemic biomarkers in NBIA including proteomic analysis of 30 systemic blood proteins, including iron trafficking proteins is ongoing. Conclusions: We expand previous findings of elevated levels of systemic oxidative stress in other neurodegenerative diseases such as PD to include NBIA patients with PKAN and PLAN. We provide novel evidence of elevated levels of Free MDA; representative of an acute oxidative stress burden in NBIA in addition to the previously noted elevation in total MDA levels. We provide preliminary signs that of an accompanying inflammatory burden in NBIA, but a larger sample group may be needed to determine its significance. References M. Minkley, A. Jackson, D. Smith, C. Borchers, E. Vichinsky, R. Nashmi, P.B. Walter and P. M. Macloed. (2017). Neurodegeneration with Brain Iron Accumulation: PLA2G6-Associated Dystonia-Parkinsonism: Clinical and Animal Studies. Presented at the 2017 European Human Genetics Conference, Copenhagen, Denmark . Disclosures Minkley: Apopharma: Research Funding. Neumayr: Apopharma: Research Funding. Walter: Apopharma: Research Funding.

scholarly journals Gross Motor Function of A Child With Neurodegeneration With Brain Iron Accumulation (NBIA)

2013 ◽  
Vol 21 (4) ◽  
pp. 574-579
Author(s):  
Rubia do Nascimento Fuentefria ◽  
Franciane Barbieri Fiório ◽  
Daniela Sposito Dias ◽  
Alexandre Meneghello Fuentefria
Keyword(s):  
Clinical Diagnosis ◽  
Motor Function ◽  
Functional Performance ◽  
Standing Position ◽  
Iron Accumulation ◽  
Brain Iron ◽  
Mri Findings ◽  
Gross Motor ◽  
Gross Motor Function ◽  
Extrapyramidal Signs

Introduction. Neurodegeneration with brain iron accumulation (NBIA) involves a group of progressive extrapyramidal disorders characterised by iron accumulation in the brain. Objective. to de­scribe the gross motor function of a child with clinical diagnosis of NBIA. Method. This is a case report involving a 7-year-old child and clinical diagnosis of NBIA. This study evaluated the history of the disease and the neuromotor functions of the child using a neurological physiotherapy evaluation form. The GMFM - Gross Motor Function Measure, a system of quantitative assessment of gross motor function in five broad dimensions, was applied. Case Presentation. Magnetic resonance imaging (MRI) showed the eye-of-the-tiger sign in the me­dial globus pallidus. Clinical examination presented extrapyramidal signs like dystonia, choreoathetosis, dysarthria and visual impairment. In this case, the combination of clinical and MRI findings was con­sistent with NBIA. Results. In the A dimension (down and roll) of GMFM, the child achieve a score of 39 points (76% of the gross mo­tor function); in the B dimension (sit) she achieve a total score of 60 points (30% of the function); in the C dimension (crawl and kneel) she achieve a score of 1 point (2% of the function); in the D dimen­sion (standing position) and in the E dimension (walk, run and jump) she did not score in any item. Conclusion. The significant deficit in proximal stability and frequent extensor dystonic spasms affected the child’s functional performance.

scholarly journals Neurodegeneration with Brain Iron Accumulation in an Eleven-Year-Old Jamaican Male

2014 ◽  
Vol 2014 ◽  
pp. 1-2 ◽  
Author(s):  
Peter Johnson ◽  
Roxanne Melbourne-Chambers ◽  
Nilesh Desai ◽  
Emma Greenaway
Keyword(s):  
Magnetic Resonance Imaging ◽  
Magnetic Resonance ◽  
Inborn Error ◽  
Autosomal Recessive ◽  
Iron Accumulation ◽  
Imaging Findings ◽  
Resonance Imaging ◽  
Brain Iron ◽  
Extrapyramidal Signs ◽  
The Caribbean

We present a case of an eleven-year-old boy presenting with progressive extrapyramidal signs and dementia. His imaging findings demonstrated the classic eye-of-the-tiger sign on T2W magnetic resonance imaging. He was diagnosed with pantothenate kinase-associated neurodegeneration (PKAN). This is a rare autosomal recessive inborn error of coenzyme A metabolism, caused by mutations inPANK2. This is the first reported case of PKAN from the Caribbean.

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