Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

Choayb, Safaa; Adil, Hajar; Mohamed, Daoud Ali; Allali, Nazik; Chat, Latifa; Haddad, Siham El

doi:10.1155/2021/6633217

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…Both types are characterized by iron accumulation in globus pallidus (GP), which appears as a bilateral pallidal hypointensity with a central hyperintense signal in the T2-weighted MRI images of the brain. This peculiar signal takes the name “eye of the tiger sign”, and it is considered the pathognomonic sign of the disease [ 46 ], even though it can either be absent [ 47 ] or present in other NBIA [ 48 ].…”

Section: Inborn Errors Of Coa Biosynthesismentioning

confidence: 99%

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

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Tiranti

et al. 2023

IJMS

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Coenzyme A (CoA) is a vital and ubiquitous cofactor required in a vast number of enzymatic reactions and cellular processes. To date, four rare human inborn errors of CoA biosynthesis have been described. These disorders have distinct symptoms, although all stem from variants in genes that encode enzymes involved in the same metabolic process. The first and last enzymes catalyzing the CoA biosynthetic pathway are associated with two neurological conditions, namely pantothenate kinase-associated neurodegeneration (PKAN) and COASY protein-associated neurodegeneration (CoPAN), which belong to the heterogeneous group of neurodegenerations with brain iron accumulation (NBIA), while the second and third enzymes are linked to a rapidly fatal dilated cardiomyopathy. There is still limited information about the pathogenesis of these diseases, and the knowledge gaps need to be resolved in order to develop potential therapeutic approaches. This review aims to provide a summary of CoA metabolism and functions, and a comprehensive overview of what is currently known about disorders associated with its biosynthesis, including available preclinical models, proposed pathomechanisms, and potential therapeutic approaches.

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Section: Inborn Errors Of Coa Biosynthesismentioning

confidence: 99%

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Cavestro

Diodato

Tiranti

et al. 2023

IJMS

View full text Add to dashboard Cite

show abstract

Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload

et al. 2022

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Aceruloplasminemia is a rare autosomal recessive disorder of iron accumulation in the brain. It is one of the subtypes of Neurodegeneration with brain iron accumulation and is characterized by the uniform involvement of all basal ganglia, thalami, dentate nuclei, and cortex. Aceruloplasminemia is the only known iron overload disorder in which brain and systemic iron overload are combined. Here, we present a 53-year-old female who had progressive cognitive disorders with motor deficits. MRI showed extensive and abundant iron deposited in the brain and in the liver.

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Eye of the Tiger Sign in Pantothenate Kinase-Associated Neurodegeneration

Cited by 2 publications

References 9 publications

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Inherited Disorders of Coenzyme A Biosynthesis: Models, Mechanisms, and Treatments

Brain iron accumulation on MRI revealing aceruloplasminemia: a rare cause of simultaneous brain and systemic iron overload

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