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Cited by 90Neurological diseases and metabolismIron Metabolism and DisordersMetabolism and Genetic Disorders

Neurodegeneration with Brain Iron Accumulation Disorders: Valuable Models Aimed at Understanding the Pathogenesis of Iron Deposition

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Levi, Sonia, Tiranti, Valeria·2019·Pharmaceuticals
DOI 10.3390/ph12010027PMC PMC6469182
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Abstract

Neurodegeneration with brain iron accumulation (NBIA) is a set of neurodegenerative disorders, which includes very rare monogenetic diseases. They are heterogeneous in regard to the onset and the clinical symptoms, while the have in common a specific brain iron deposition in the region of the basal ganglia that can be visualized by radiological and histopathological examinations. Nowadays, 15 genes have been identified as causative for NBIA, of which only two code for iron-proteins, while all the other causative genes codify for proteins not involved in iron management. Thus, how iron participates to the pathogenetic mechanism of most NBIA remains unclear, essentially for the lack of experimental models that fully recapitulate the human phenotype. In this review we reported the recent data on new models of these disorders aimed at highlight the still scarce knowledge of the pathogenesis of iron deposition.

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  • Patients bearing compound heterozygous REPS1 point mutations show progressive cerebral and cerebellar atrophy.

    “Patients bearing compound heterozygous REPS1 point mutations show progressive cerebral and cerebellar atrophy (24, 25).”

    From Regulation of cargo exocytosis by a Reps1-Ralbp1-RalA module (2023) · cites this paper as [25]

    Section 1.4 reports that two sisters with REPS1 mutations had progressive cerebellar and cerebral atrophy on MRI. It does not specify that their mutations were compound heterozygous point mutations. (LLM, conf=0.88)

    Experimental — accuracy not yet measured

  • NBIA is a heterogeneous group of rare monogenetic neurodegenerative diseases exhibiting focal accumulation of intracellular iron.

    “NBIA is a heterogenous group of rare monogenetic neurodegenerative diseases exhibiting focal accumulation of intracellular iron (25).”

    From Regulation of cargo exocytosis by a Reps1-Ralbp1-RalA module (2023) · cites this paper as [25]

    The Introduction describes NBIA as a rare, genetically heterogeneous group of inherited neurodegenerative diseases with iron deposits concentrated mainly in the basal ganglia. Section 1.1 describes intracellular iron in a particular NBIA disorder, but the paper does not establish intracellular accumulation as a feature of the group as a whole. (LLM, conf=0.82)

    Experimental — accuracy not yet measured

  • REPS1 mutations in humans cause neurodegeneration with brain iron accumulation (NBIA).

    “REPS1 mutations in humans cause neurodegeneration with brain iron accumulation (NBIA), a progressive neurodegenerative disease (24–26).”

    From Regulation of cargo exocytosis by a Reps1-Ralbp1-RalA module (2023) · cites this paper as [25]

  • REPS1 mutations cause neurodegenerative diseases.

    “Because REPS1 mutations cause neurodegenerative diseases, next, we examined the functional role of the Reps1-Ralbp1-RalA module in neurons.”

    From Regulation of cargo exocytosis by a Reps1-Ralbp1-RalA module (2023) · cites this paper as [25]

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Cited by

Sorted by citations

Authors
Levi, S., & Tiranti, V.
Affiliations
  • Vita-Salute San Raffaele University (IT)
  • Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
Corresponding author
Levi, Sonia
ORCID
Venue
Pharmaceuticals
Publisher
MDPI AG
Published
2019-02-09
Volume
12
Issue
1
Pages
27
ISSN
1424-8247 (ISSN-L)
DOI
10.3390/ph12010027
PMC
PMC6469182
OpenAlex
W2911702395
Cited by
90
References
11
Citations by year
2026: 6 · 2025: 8 · 2024: 9 · 2023: 10 · 2022: 16 · 2021: 17 · 2020: 14 · 2019: 9 · 2018: 1
FWCI
1.47
Type
journal article
Language
en
Open access
Licence
Locations
  • Pharmaceuticals (publishedVersion, cc-by)
  • PubMed Central (publishedVersion, cc-by)
  • PubMed (publishedVersion)
  • DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
  • Archivio Istituzionale della Ricerca - Università Vita-Salute San Raffaele (submittedVersion)
Topics
  • Life Sciences › Neuroscience › Neurology › Neurological diseases and metabolism
  • Health Sciences › Medicine › Hematology › Iron Metabolism and Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
Keywords
neurodegeneration with brain iron accumulation, brain iron accumulation, pathogenesis, animal models, basal ganglia, iron metabolism, disease-associated genes

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