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Deficiency of Ceruloplasmin

Aceruloplasminemia


Presentation

  • Results : A pair of brothers presented with anemia, hyperferritinemia, low serum iron, copper and ceruloplasmin, low urinary copper, diabetes and neuropsychiatric involvement.[mdsabstracts.org]
  • Neurologic symptoms improved gradually and, 3 years later, ataxia was no longer present.[bloodjournal.org]
  • Brain MRI demonstrates marked hypointensity on T2-weighted images in the basal ganglia and the dentate nuclei; superficial siderosis may also be present 2.[n.neurology.org]
  • The clinical presentation is quite similar with aceruloplasminemia except for diabetes mellitus.[path.upmc.edu]
  • An update on advances in neuroimaging and pathology of metal related disease is also presented.[books.google.ro]
Hemophilia A
  • REFERENCES ANTONARAKIS SE, KAZAZIAN HH, TUDDENHAM EG (1995) Molecular etiology of factor VIII deficiency in hemophilia A.[scielo.conicyt.cl]
Hypomimia
  • Neurological examination (NE) showed facial hypomimia, neck dystonia, bradykinesia, rigidity, ataxia, pyramidal signs and oro-mandibular dyskinesias. Archaic reflexes were also present.[mdsabstracts.org]
Cerebellar Ataxia
  • Clinical findings Movement disorder (blepharospasm, grimacing, facial and neck dystonia, tremors, chorea) and cerebellar ataxia (gait ataxia, dysarthria), progressive extrapyramidal signs, and dementia Lab Absent serum ceruloplasmin due to a mutation[medical-dictionary.thefreedictionary.com]
  • The clinical symptoms are progressive dementia, extrapyramidal disorders, cerebellar ataxia, and diabetes mellitus. The symptoms appear when patients are between 30 and 50 years old.[genome.jp]
  • Stem-cell-based therapeutic approaches for Aceruloplasminemia: Allogeneic adipose-derived mesenchymal stem cells for treatment of cerebellar ataxia Umbilical cord-derived mesenchymal stem cells for hereditary cerebellar ataxia Embryonic/Adult Cultured[malacards.org]
  • Clinical features consisted of chorea, cerebellar ataxia, dementia, diabetes mellitus, retinal pigmentation and iron deposition in the liver and brain without copper overload in those organs.[karger.com]
Cognitive Disorder
  • Keywords: Ceruloplasmin/deficiency, Ceruloplasmin/genetics, Cognition disorders/etiology, Iron metabolism disorders, Case reports Introduction Aceruloplasminemia is a rare autosomal recessive disease, in which there is a mutation that leads to the absence[ncbi.nlm.nih.gov]
Nystagmus
  • The neurological examination may reveal nystagmus, dysarthria, intention tremors and involuntary movements of limbs. Pathogenesis Aceruloplasminemia is caused by mutations in the gene encoding ceruloplasmin.[flipper.diff.org]
  • Difficulty using or controlling the muscles of the mouth, tongue, larynx or vocal cords which are used to make speech This can make a person’s speech difficult to understand in several different ways, including stuttering, slurring, or soft or raspy speech Nystagmus[nbiacure.org]
  • Neurological examination showed no abnormal findings such as nystagmus, speech disturbance, ataxia, motor disturbances, sensory disturbances, or involuntary movement.[jnnp.bmj.com]
  • Extraocular movements were full, without nystagmus or diplopia. Dysdiadochokinesis of the bilateral hands was mild. Muscle strength and deep tendon reflexes were preserved. Babinski sign was not present.[journals.lww.com]
Mental Deterioration
  • The disease begins usually around the age of 15 and presents with gait disorders, rigidity of the lower limbs, dystonia, motor slowing, dysarthria, mental deterioration and a high incidence of choreoathetosis.[path.upmc.edu]
Spastic Gait
  • gait. 6 We report here the first case of iron overload related to acquired aceruloplasminemia in a patient suffering from copper deficiency.[bloodjournal.org]

Treatment

  • No treatments have yet been reported giving sustained clinical benefit at a neurologically symptomatic stage of the disease (1).[mdsabstracts.org]
  • Treatment of aceruloplasminemia is mainly based on the control of iron overload.[ncbi.nlm.nih.gov]

Prognosis

  • Prognosis Prognosis may include heart failure due to cardiac iron overload. To date five patients with aceruloplasminemia are known to have died from heart failure probably due to cardiac iron overload in their sixties.[orpha.net]
  • Prevention - Aceruloplasminemia Diagnosis - Aceruloplasminemia Prognosis - Aceruloplasminemia Not supplied. Treatment - Aceruloplasminemia Resources - Aceruloplasminemia[checkorphan.org]
  • The neurological outcome has an adverse effect on the prognosis, which may result in fatality. Therefore, early diagnosis and intervention may prevent a devastating neurological damage.[read.qxmd.com]
  • Treatment and prognosis Treatment is with iron chelation therapy, using agents such as desferrioxamine 10.[radiopaedia.org]

Etiology

  • Etiology Aceruloplasminemia is caused by a complete absence of ceruloplasmin ferroxidase activity caused by homozygous mutation of the ceruloplasmin ( CP ) gene (3q23-q24).[orpha.net]
  • Etiology Aceruloplasminemia is inherited as an autosomal recessive condition, which means both copies of the gene of Ceruloplasmin in each cell have mutations.[flipper.diff.org]
  • Keywords: Ceruloplasmin/deficiency, Ceruloplasmin/genetics, Cognition disorders/etiology, Iron metabolism disorders, Case reports Introduction Aceruloplasminemia is a rare autosomal recessive disease, in which there is a mutation that leads to the absence[ncbi.nlm.nih.gov]

Epidemiology

  • […] of Women Employees at Risk of Type 2 Diabetes Comparison of Different Methods for Carbohydrate Disorder Detection Show more Epidemiology–Clinical–Diagnosis and Screening Similar Articles[diabetes.diabetesjournals.org]
  • Summary Epidemiology To date 56 cases have been reported and prevalence has been estimated at about 1/1,000,000-1/1,200,000.[orpha.net]
  • Epidemiology Aceruloplasminemia has been seen worldwide, but its overall prevalence is unknown. Studies in Japan have estimated that approximately 1 in 100,000 individuals in this population are affected. Miyajima H., Takahashi Y, Kono S.[flipper.diff.org]
  • Diet in the epidemiology of cancer of the colon and rectum. ‎ Página 335 - Concato J, Shah N, Horwitz RI. Randomized, controlled trials, observational studies, and the hierarchy of research designs. N Engl J Med 2000; 342: 1887-92 50. ‎[books.google.es]
Sex distribution
Age distribution

Pathophysiology

  • […] acquired ferroportin deficiency in PNH monocytes implies that loss of GPI-anchored protein not only exposes these cells to lysis by complement, but also to intracellular iron retention, generation of reactive oxygen species and may be involved in the pathophysiology[bloodjournal.org]
  • […] observed in the cortex and amyloid plaques of patients with AD, substantia nigra in PD, and spinal cord in ALS. 9 The overlap of NBIA disorders with common neurodegenerative disorders has generated significant interest and suggests an element of shared pathophysiology[journals.lww.com]
  • Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol . 2002; 36 ( 6 ): 85-6 [ PubMed ] [ Google Scholar ] 13.[ncbi.nlm.nih.gov]

Prevention

  • Iron-chelating agents decrease brain and liver iron stores, improve the diabetic mellitus condition and prevent the progression of neurologic symptoms in symptomatic individuals. However, there is no universally accepted regimen.[tandfonline.com]
  • CP gene mutations result in the production of ceruloplasmin protein that is unstable or nonfunctional, or prevent the protein from being secreted by the cells in which it is made.[flipper.diff.org]
  • Management Chelation with desferrioxamine, fresh-frozen plasma (FFP) to reduce iron in the liver may improve neurologic signs/symptoms; antioxidants (vitamin E), zinc and deferasirox (iron chelator) may prevent hepatic and pancreatic damage.[medical-dictionary.thefreedictionary.com]
  • Iron chelation therapy to prevent the manifestations of aceruloplasminemia. Neurology 2015; 85: 1085-1086.[n.neurology.org]

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