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The neurological presentation of ceruloplasmin gene mutations

Alisdair McNeill1, Massimo Pandolfo, Jens Kuhn

  • 1Department of Clinical Genetics, NIHR, Birmingham Women's Hospital, Birmingham, UK. Amcneill@doctors.org.uk

European Neurology
|August 1, 2008
PubMed

Insights

Aceruloplasminemia, a rare iron metabolism disorder, primarily affects the brain and eyes. This review highlights cognitive impairment, ataxia, and retinal degeneration as key neurological symptoms in affected individuals.

Area of Science:

  • Neurology
  • Genetics
  • Metabolic Disorders

Background:

  • Aceruloplasminemia is an autosomal recessive disorder caused by ceruloplasmin gene mutations.
  • It involves abnormal iron metabolism with potential neurological and systemic consequences.

Purpose of the Study:

  • To delineate the neurological phenotype of aceruloplasminemia.
  • To analyze clinical presentations across different genotypes and disease severities.

Main Methods:

  • Systematic review of published case reports.
  • Inclusion of an unpublished case for comprehensive analysis.
  • Analysis of patient demographics, clinical signs, and diagnosis age.

Main Results:

  • Thirty-three cases (32 published, 1 unpublished) were analyzed.
  • Homozygous patients frequently exhibited cognitive impairment (42%), cerebellar ataxia (46%), and retinal degeneration (75%).
  • Heterozygotes showed milder neurological signs, and no genotype-phenotype correlation was found, though homozygotes had more severe disease.

Conclusions:

  • Aceruloplasminemia presents with a distinct neurological phenotype, primarily affecting cognition, motor control, and vision.
  • Early diagnosis and understanding the spectrum of symptoms are crucial for managing this rare iron metabolism disorder.

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