However, a much broader clinical presentation can be seen with cerebellar dysfunction, involuntary movements such as chorea, apathy, and memory loss being more common presenting symptoms [14]. [cureus.com]

Though physicians should treat such patients earlier, it is difficult to diagnose the disease before the presentation of neurological symptoms. [jstage.jst.go.jp]

We present the following article in accordance with the CARE reporting checklist (available at https://apm.amegroups.com/article/view/10.21037/apm-21-1086/rc). [apm.amegroups.com]

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]

• Right Upper Quadrant Pain

  Case Presentation A 51-year-old female with a medical history of chronic microcytic anemia (baseline hemoglobin 10-11 g/dL) presented to the emergency department with new-onset post-prandial right upper quadrant pain. [cureus.com]

• Asterixis

  She was not jaundiced on physical examination, had no asterixis, and had no skin evidence of chronic liver disease such as spider angioma or palmar erythema. [cureus.com]

• Palmar Erythema

  She was not jaundiced on physical examination, had no asterixis, and had no skin evidence of chronic liver disease such as spider angioma or palmar erythema. [cureus.com]

• Cerebellar Ataxia

  Clinical manifestations in 45 Japanese patients showed a neurological phenotype consisting of cerebellar ataxia, dysarthria, involuntary movements, parkinsonism and cognitive impairment, manifesting around the fifth decade of life and usually preceded [link.springer.com]

  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]

• 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]

  Nystagmus (repetitive, uncontrolled back-and-forth eye movements). [nbiasuisse.org]

  Neurological examination showed no abnormal findings such as nystagmus, speech disturbance, ataxia, motor disturbances, sensory disturbances, or involuntary movement. [jnnp.bmj.com]

  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]

  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]

Wilson Disease Workup. Medscape. Available online at https://emedicine.medscape.com/article/183456-workup#c7. [Accessed February 2020] (Updated January 2020) Wilson Disease. U.S. National Library of Medicine Genetics Home Reference. [labtestsonline.it]

These neurologically asymptomatic patients were diagnosed following the onset of diabetes and/or anemia [7, 17, 22, 28, 43, 47], during the diagnostic workup of unexplained hyperferritinemia with low transferrin saturation [8, 17, 20, 23, 39, 43, 46, [ojrd.biomedcentral.com]

Combining iron chelation and fresh-frozen plasma treatment 2016 - Iron chelation in the treatment of neurodegenerative diseases 2016 - Aceruloplasminemia With Psychomotor Excitement and Neurological Sign Was Improved by Minocycline (Case Report) 2015 [nbiadisorders.org]

Desferrioxamine treatment of aceruloplasminemia: Long-term follow-up. Mov Disord. 2011;26:2142–4. [PubMed: 21594898] Patel BN, Dunn RJ, David S. [ncbi.nlm.nih.gov]

Treatment and prognosis Treatment is with iron chelation therapy, using agents such as desferrioxamine 10. [radiopaedia.org]

Repeat FFP treatments can improve neurologic symptoms and reduce iron in the liver. [nbiasuisse.org]

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]

Treatment and prognosis Treatment is with iron chelation therapy, using agents such as desferrioxamine 10. [radiopaedia.org]

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. [journals.lww.com]

Table 1 Main characteristics of aceruloplasminemia causing parkinsonism Full size table In conclusion, aceruloplasminemia is associated with parkinsonism and should be included in the NBIA etiology of parkinsonism. [link.springer.com]

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]

Although the diabetes of ACP is not included in the genetic etiology of DM as classified by the American Diabetes Association (33), hyperglycemia is one of the most common signs of ACP. [apm.amegroups.com]

[…] 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]

Its prevalence is estimated at about one per two million offspring in Japanese non-consanguineous marriages, while epidemiologic data in the non-Japanese population are substantially missing [1]. [mdpi.com]

Collaborative joint efforts are needed to better understand the pathophysiology of this potentially disabling disease. Tipo de documento Versión del documento Lengua Materias (CDU) 61 - Medicina 616.8 - Neurología. Neuropatología. [repositori.uic.es]

[…] 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]

Haemochromatosis: novel gene discovery and the molecular pathophysiology of iron metabolism.Hum Mol Genet. 2000; 9: 2377-2382 Harris Z.L. Takahashi Y. Miyajima H. Serizawa M. MacGillivray R.T. Gitlin J.D. [journal-of-hepatology.eu]

Aceruloplasminemia: new clinical, pathophysiological and therapeutic insights. J Hepatol. 2002;36:851–6. [PubMed: 12044538] Mariani R, Arosio C, Pelucchi S, Grisoli M, Piga A, Trombini P, Piperno A. [ncbi.nlm.nih.gov]

Pathophysiology Wilson's disease is a disease of copper toxicity. Absorbed dietary copper is bound mainly to albumin in the portal circulation from which it is avidly extracted by hepatocytes. [jpma.org.pk]

MRI scans can also confirm a diagnosis; abnormal low intensities can indicate iron accumulation in the brain.[5] Prevention[edit] Children of affected individuals are obligate carriers for aceruloplasminemia. [en.wikipedia.org]

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]