Estimation of the gene frequency of aceruloplasminemia in Japan

Miyajima, Hiroaki; Kohno, Satoshi; Takahashi, Yoshitomo; Yonekawa, Osamu; Kanno, Takashi

doi:10.1212/wnl.53.3.617

Cited by 71 publications

(37 citation statements)

References 8 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…There are no reliable data on the incidence and prevalence in Western European countries. 41 In total, 35 pathogenic CP mutations have been described in 50 families. ACP is a rare autosomal recessive disease.…”

Section: B Ferroportin Disease Due Defects In Slc40a1mentioning

confidence: 99%

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

Donker

Raymakers

Vlasveld

et al. 2014

Blood

View full text Add to dashboard Cite

During recent years, our understanding of the pathogenesis of inherited microcytic anemias has gained from the identification of several genes and proteins involved in systemic and cellular iron metabolism and heme syntheses. Numerous case reports illustrate that the implementation of these novel molecular discoveries in clinical practice has increased our understanding of the presentation, diagnosis, and management of these diseases. Integration of these insights into daily clinical practice will reduce delays in establishing a proper diagnosis, invasive and/or costly diagnostic tests, and unnecessary or even detrimental treatments. To assist the clinician, we developed evidence-based multidisciplinary guidelines on the management of rare microcytic anemias due to genetic disorders of iron metabolism and heme synthesis. These genetic disorders may present at all ages, and therefore these guidelines are relevant for pediatricians as well as clinicians who treat adults. This article summarizes these clinical practice guidelines and includes background on pathogenesis, conclusions, and recommendations and a diagnostic flowchart to facilitate using these guidelines in the clinical setting.

show abstract

Section: B Ferroportin Disease Due Defects In Slc40a1mentioning

confidence: 99%

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

Donker

Raymakers

Vlasveld

et al. 2014

Blood

View full text Add to dashboard Cite

show abstract

“…This rare autosomal recessive disorder is estimated to occur at a frequency of 1 per 2 mil-lion in Japan [92]. This disorder is associated with several mutations in the ceruloplasmin gene.…”

Section: Aceruloplasminemiamentioning

confidence: 99%

“…This disorder is associated with several mutations in the ceruloplasmin gene. It produces marked accumulation of iron in the liver, pancreas, retina, and basal ganglia, the latter is thought to contribute to a neurodegenerative disorder resembling parkinsonism [92]. CSF from affected patients has shown a threefold elevated iron concentration, increased superoxide dismutase activity and lipid peroxidation products [59,93] suggesting a direct link between iron overload and oxidative stress as one possible causative mechanism.…”

Section: Aceruloplasminemiamentioning

confidence: 99%

Brain Iron Metabolism and Neurodegenerative Disorders

2002

View full text Add to dashboard Cite

Iron, an essential element for central nervous system (CNS) function, has frequently been found to accumulate in brain regions that undergo degeneration in neurological diseases such as Alzheimer disease, Parkinson disease, Friedreich ataxia and other disorders. However, the precise role of iron in the cause of many neurodegenerative diseases is unclear. To assist in understanding the potential importance of iron in CNS disease, this review summarizes the present knowledge in the areas of CNS iron metabolism, homeostasis and disregulation of iron balance caused by mutations in genes encoding proteins involved in iron transport, storage and metabolism. This review encompasses neurodegenerative disorders associated with both iron overload and deficiency to highlight areas where iron misregulation is likely to be important in the pathophysiology of several human brain diseases.

show abstract

“…Although hemochromatosis is one of the most common genetic disorders in Western countries (13), aceruloplasminemia has been reported mainly in Japan. The incidence of a homozygote with aceruloplasminemia in the Japanese population is estimated to be approximately 1 per 2,000,000 for nonconsanguineous marriages (14).…”

Section: Discussionmentioning

confidence: 99%

Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

et al. 2010

View full text Add to dashboard Cite

Aceruloplasminemia is a rare autosomal recessive disease first reported by Miyajima et al. (Neurology 37: 761-767, 1987); it is clinically characterized by diabetes mellitus, retinal degeneration and neurological abnormalities, such as cerebellar ataxia, extrapyramidal signs and dementia. Aceruloplasminemia is caused by mutations in the ceruloplasmin gene, which results in the absence of serum ceruloplasmin and iron overload in the brain, liver, pancreas and other organ tissues. However, little is known about endocrine diseases associated with aceruloplasminemia. We report herein a case of aceruloplasminemia accompanied by central diabetes insipidus and hypothalamic hypothyroidism.

show abstract

Estimation of the gene frequency of aceruloplasminemia in Japan

Cited by 71 publications

References 8 publications

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

Practice guidelines for the diagnosis and management of microcytic anemias due to genetic disorders of iron metabolism or heme synthesis

Brain Iron Metabolism and Neurodegenerative Disorders

Central Diabetes Insipidus and Hypothalamic Hypothyroidism Associated with Aceruloplasminemia

Contact Info

Product

Resources

About