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 novel mutation in a family with marked phenotypic variability.

Movement disorders : official journal of the Movement Disorder Society - 15 Apr 2008

Fasano Alfonso, Colosimo Cesare, Miyajima Hiroaki, Tonali Pietro Attilio, Re Thomas J, Bentivoglio Anna Rita

Abstract excerpt

Hereditary aceruloplasminemia (HA) is a rare inherited disease characterized by anemia, iron overload, diabetes, and neurodegeneration. HA is caused by the homozygous mutation of the ceruloplasmin (CP) gene. We report two siblings with markedly different phenotypes carrying a novel mutation: a homozygous deletion of two nucleotides (1257-1258 TT del) causing the premature stop of the Cp protein translation...

Read the complete abstract on PubMed

Topics

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

Share to Ceruloplasmin
Share to Deferoxamine

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

Share to Diabetes Mellitus

Share to Heredodegenerative Disorders, Nervous System

Share to Iron Chelating Agents

Share to Iron Overload

Share to Seizures

Source

Identifiers

PMID: 18200628
DOI: 10.1002/mds.21938

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.PMID 18200628Read ↗

A novel ceruloplasmin mutation identified in a Chinese patient and clinical spectrum of aceruloplasminemia patients.Semantic proximity Read ↗

A Novel Ceruloplasmin Mutation Identified in a Chinese Patient and Clinical Spectrum of Aceruloplasminemia PatientsSemantic proximity Read ↗

Novel ceruloplasmin mutation causing aceruloplasminemia with hepatic iron overload and diabetes without neurological symptoms.Semantic proximity Read ↗

Genetic and Clinical Heterogeneity in Thirteen New Cases with Aceruloplasminemia. Atypical Anemia as a Clue for an Early Diagnosis.Semantic proximity Read ↗

Hepatic but not brain iron is rapidly chelated by deferasirox in aceruloplasminemia due to a novel gene mutation.Semantic proximity Read ↗

New mutation of the ceruloplasmin gene in the case of a neurologically asymptomatic patient with microcytic anaemia, obesity and supposed Wilson's disease.Semantic proximity Read ↗

Aceruloplasminemia: an update.Semantic proximity Read ↗

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

Aceruloplasminaemia: a family with a novel mutation and long-term therapy with deferasirox.Semantic proximity Read ↗

Aceruloplasminemia: molecular characterization of this disorder of iron metabolism.Semantic proximity Read ↗

Novel ceruloplasmin gene mutation causing aceruloplasminemia with diabetes in a Chinese woman: a case report.Semantic proximity Read ↗

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

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