Infantile and childhood onset <i><scp>PLA</scp>2G6</i>‐associated neurodegeneration in a large North African cohort

Romani, Marta; Kraoua, Ichraf; Micalizzi, Alessia; Klaa, Hédia; Benrhouma, Hanène; Drissi, C.; Turki, Ilhem; Castellana, Stefano; Mazza, Tommaso; Valente, Enza Maria; Gouider-Khouja, N.

doi:10.1111/ene.12552

Cited by 25 publications

(15 citation statements)

References 21 publications

(43 reference statements)

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“…PLA2G6-associated neurodegeneration (PLAN) describes neurodegeneration with brain iron accumulation (NBIA) caused by PLA2G6 mutations. In our cohort of North African patients with PLAN [1], we noticed that aspartate aminotransferase (AST) levels were increased in 15/15 patients and lactate dehydrogenase (LDH) in 13/14. These abnormalities were detectable from early stages of disease and persisted with time.…”

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confidence: 94%

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6‐associated neurodegeneration

Kraoua

Romani

Tonduti³

et al. 2016

Euro J of Neurology

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confidence: 94%

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6‐associated neurodegeneration

Kraoua

Romani

Tonduti³

et al. 2016

Euro J of Neurology

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“…Both disorders have been meticulously described in previous studies. [9][10][11][12][13][14][15][16][17][18] Our review focuses on the more recently reported genetic NBIA disorders, providing a detailed and comprehensive analysis of these conditions. Chronologically, gene discovery has led to the identification of FAHN, MPAN, BPAN, and CoPAN as distinct NBIA subtypes.…”

Section: Introductionmentioning

confidence: 99%

Update in Neurodegeneration with Brain Iron Accumulation: Advances in Molecular Diagnosis and Treatment Strategies

Csányi

Papandreou

Cuka³

et al. 2015

J Pediatr Neurol

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Neurodegeneration with brain iron accumulation (NBIA) is an umbrella term used to clinically describe a group of neurologic conditions associated with high brain iron. To date, there are 10 genetic subtypes described, which share several common clinical features. Novel technologies such as improved magnetic resonance imaging techniques and whole exome sequencing have provided new clinical and genetic insight into these disorders, thereby improving clinical diagnosis for patients. Indeed, precise diagnosis is now possible for approximately 60% of patients with NBIA. Despite these genetic advances, little is known about the exact underlying disease pathways governing many forms of NBIA. In fact, for most subtypes, the causative genes and affected proteins are not directly related to iron homeostasis. Management for all subtypes remains mainly supportive and based on a multidisciplinary approach, but there are promising advances in the development of novel therapeutic strategies. Focusing mainly on the newly described NBIA subtypes, we summarize the clinical phenotypes, genetic basis, and postulated pathophysiological disease mechanisms, and propose an NBIA diagnostic pathway to guide clinical testing and genetic councelling.

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“…INAD belongs to the family of PLA2G6-associated neurodegeneration. 1 In a child with infantile neuroregression, the peculiar changes in the brainstem and corpus callosum in the presence of cerebellar atrophy serve as a guide to further genetic testing for this disorder. analysis of the radiologic data, critical review of manuscript, final approval of the version to be published.…”

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confidence: 99%

Teaching NeuroImages: Beaking in the brainstem

et al. 2019

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A 2-year-old boy presented with developmental regression, progressive stiffening of limbs, and strabismus since the age of 8 months. A child of consanguineous parents, he had a similarly affected older brother. Nerve conduction studies were suggestive of an axonal sensorimotor neuropathy. A diagnosis of infantile neuroaxonal dystrophy (INAD) was concluded based on a suggestive MRI (figure) and the detection of a pathogenic homozygous variant in the PLA2G6 gene (c.T2370G).

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Infantile and childhood onset PLA2G6‐associated neurodegeneration in a large North African cohort

Abstract: The PLAN-associated phenotypes and the challenges of diagnosing the childhood-onset form are delineated, and a common North African founder mutation is identifed.

Cited by 25 publications

References 21 publications

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6‐associated neurodegeneration

Elevated aspartate aminotransferase and lactate dehydrogenase levels are a constant finding in PLA2G6‐associated neurodegeneration

Update in Neurodegeneration with Brain Iron Accumulation: Advances in Molecular Diagnosis and Treatment Strategies

Teaching NeuroImages: Beaking in the brainstem

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