Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Mar 2022

Salsone Maria, Arabia Gennarina, Annesi Grazia, Gagliardi Monica, Nistico Rita, Novellino Fabiana, Ferini-Strambi Luigi, Quattrone Andrea, Quattrone Aldo

Abstract excerpt

OBJECTIVE: Structural abnormalities in thalami and basal ganglia, in particular the globus pallidus (GP), are a neuroimaging hallmark of hereditary aceruloplasminemia (HA), yet few functional imaging data exit in HA carriers. This study investigated the iron-related structural and functional abnormalities in an Italian HA family. METHODS: Multimodal imaging was used including structural 3 T MRI, functional...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Ceruloplasmin
Share to Iron Metabolism Disorders

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Magnetic Resonance Imaging

Share to Multimodal Imaging

Share to Mutation

Share to Neurodegenerative Diseases

Share to Positron-Emission Tomography

Share to Radiopharmaceuticals

Source

Identifiers

PMID: 34559338
DOI: 10.1007/s10072-021-05613-4

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aceruloplasminemia: a multimodal imaging study in an Italian family with a novel mutation.PMID 34559338Read ↗

Phenotypic heterogeneity in seven Italian cases of aceruloplasminemia.Semantic proximity Read ↗

Identification of Novel Compound Mutations in PLA2G6-Associated Neurodegeneration Patient with Characteristic MRI Imaging.Semantic proximity Read ↗

Heterozygous PLA2G6 Mutation Leads to Iron Accumulation Within Basal Ganglia and Parkinson's DiseaseSemantic proximity Read ↗

The copper-iron connection: hereditary aceruloplasminemia.Semantic proximity Read ↗

[A case of aceruloplasminemia presenting as cerebellar ataxia with homozygous mutation nt2602 delG].Semantic proximity Read ↗

Aceruloplasminemia: an update.Semantic proximity Read ↗

[Aceruloplasminemia].Semantic proximity Read ↗

Extending the aceruloplasminemia phenotype: NBIA on imaging and acanthocytosis, yet only minor neurological findings.Semantic proximity Read ↗

Dual-phase 18 F-FP-CIT positron emission tomography and cardiac 123 I-MIBG scintigraphy of Parkinson's disease patients with GBA mutations: evidence of the body-first type?Semantic proximity Read ↗

A novel splicing mutation in the ceruloplasmin gene responsible for hereditary ceruloplasmin deficiency with hemosiderosis.Semantic proximity Read ↗

Neurodegeneration with brain iron accumulation: clinical, radiographic and genetic heterogeneity and corresponding therapeutic options.Semantic proximity Read ↗

Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.