Aceruloplasminemia: a novel mutation in a family with marked phenotypic variability.

doi:10.1002/mds.21938

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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...

Topics

Brain
Ceruloplasmin
Deferoxamine
Diabetes Mellitus
Disease Progression
Family
Female
Heredodegenerative Disorders, Nervous System
Humans
Iron
Iron Chelating Agents

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Iron Overload

Magnetic Resonance Imaging

Male

Metal Metabolism, Inborn Errors

Middle Aged

Mutation

Phenotype

Source

Open in PubMed

Identifiers

PMID: 18200628
DOI: 10.1002/mds.21938

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