A female patient presented with significant developmental delay in early childhood and subsequently demonstrated neurodegeneration with progressive dystonia and dementia in her third decade. [ncbi.nlm.nih.gov]

The patient’s clinic presentation and neuroimaging were highly suggestive of NBIA. Results: Genetic testing with next generation sequencing was performed for nine genes associated with NBIA but no abnormalities were detected. [neurology.org]

An update on advances in neuroimaging and pathology of metal related disease is also presented. [books.google.de]

• Disability

  KEYWORDS: Beta-propeller protein-associated neurodegeneration; Intellectual disability; Neurodegeneration with brain iron accumulation; Parkinsonism; WDR45 [ncbi.nlm.nih.gov]

• Epilepsy

  The epilepsy phenotypes comprised myoclonic, astatic and absence seizures. Furthermore, the authors suggest that neuroimaging might be normal in childhood. [epilepsygenetics.net]

  Kyushu University Hospital, Fukuoka, Japan. 6 Department of Neurology, Yotsukaidou Tokushukai Medical Center, Chiba, Japan. 7 Department of Neurology, Hyogo Prefectural Amagasaki Hospital, Hyogo, Japan. 8 Department of Neurology, Shizuoka Institute of Epilepsy [ncbi.nlm.nih.gov]

  Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Clinical and Experimental Epilepsy [discovery.ucl.ac.uk]

  Many people with BPAN have recurrent seizures (epilepsy) beginning in infancy or early childhood. Several different types of seizures can occur in this disorder, even in the same individual. [elbiruniblogspotcom.blogspot.no]

• Pain

  Treatments may help improve symptoms, relieve pain, and increase mobility. [medlineplus.gov]

  In addition, standard approaches to pain management are generally recommended where there is no identifiable treatment for the underlying cause of pain. [nbiaalliance.org]

  This includes: •Neurologic management of extrapyramidal and pyramidal disorders, seizures, and sleep disturbance; neuropsychiatric symptoms; •Pain management & management of •GIT issues such as constipation,, swallowing difficulties; nutritional status [slideshare.net]

  […] overlap with Rett syndrome include lack of purposeful hand movements, stereotypic hand movements such as repetitive midline hand-wringing, bruxism when awake, abnormal sleep patterns, features of autism spectrum disorder, and diminished response to pain [ncbi.nlm.nih.gov]

• Fever

  Often the first type to occur are febrile seizures, which are triggered by a high fever. Affected individuals can also experience generalized tonic-clonic seizures (also known as grand mal seizures). [elbiruniblogspotcom.blogspot.no]

  Moreover, it follows an increased susceptibility to autoimmune diseases (rheumatism, ulcerative colitis, Crohn's disease) and allergic Diseases such as the skin, respiratory tract or other organs (eg, eczema, hay fever, asthma). [google.ee]

• Developmental Disorder

  Though he's had various symptoms of other diseases, like those known as pervasive developmental disorders, which limit a person's range of motion, thinking, speaking and behaviors, he was just diagnosed in April with an NBIA, or Neurodegeneration with [berkshireeagle.com]

• Muscle Rigidity

  This type of seizure affects the entire body, causing muscle rigidity, convulsions, and loss of consciousness. [elbiruniblogspotcom.blogspot.no]

  Spasticity and muscle rigidity usually begin in the legs and later develop in the arms. Parkinsonism is a condition marked by tremor, slowness, rigidity and poor balance. [nbiaalliance.org]

• Abnormal Eye Movement

  She developed abnormal eye movements and auditory inattention. There were no seizures. There was no family history of neurological disease. On examination, her head circumference was normal and she did not have any dysmorphic features. [annalsofian.org]

  Torticollis is a condition in which there are involuntary contractions of neck muscles resulting in abnormal movements and positions of the head and neck. Most forms of NBIA involve eye disease. [nbiaalliance.org]

• Encephalopathy

  We report here a 4-year-old boy presenting with profound developmental delay, non-syndromic epileptic encephalopathy, and early brain atrophy. [ncbi.nlm.nih.gov]

  “Static encephalopathy” referred to the first phase of the disease, which resembled various neurological disorders in children, including epileptic encephalopathies. The eye of the tiger. [epilepsygenetics.net]

• Global Developmental Delay

  The first phase is marked by global developmental delay and seizures during early childhood. The course is dormant until adulthood, when the patient starts to develop rapidly progressing parkinsonian symptoms. [ajnr.org]

  Conclusions: BPAN is an extremely rare disease characterized by global developmental delay followed in young adulthood by progressive dystonia-parkinsonism. [neurology.org]

  Characteristic clinical features include 3 : global developmental delay during childhood sudden onset of neurocognitive changes during adolescence or young adulthood associated with levodopa resistant parkinsonism, dystonia, and dementia It was previously [radiopaedia.org]

  The natural history of their disease was remarkably uniform: global developmental delay in childhood and further regression in early adulthood with progressive dystonia, parkinsonism and dementia. [neurologiaspedalicivili.blogspot.com]

• Stroke

  Sometimes the cause is a medical condition such as alcoholism, a tumor, or a stroke. Other causes may include toxins, chemicals, and viruses. Sometimes the cause is not known. [medlineplus.gov]

  National Institute of Neurological Disorders and Stroke. [en.wikipedia.org]

  Particularly striking are an increased Pulswellengeschwmdigkeit, an increased stroke volume of the heart and increased pulse pressure. [google.ee]

• Extrapyramidal Symptoms

  The patient described here was not subjected to l -DOPA therapy as the extrapyramidal symptoms were so mild that a dopaminergic therapy was not justified at such an early stage. [journal.frontiersin.org]

The youngest patient reported with these MRI findings is a 6-year-old girl with Rett syndrome–like features diagnosed by whole exome sequencing. 8 In contrast, although our patient underwent her first brain MRI as part of a diagnostic workup for cognitive [pediatrics.aappublications.org]

(See Presentation and Workup.) [4, 5, 6] PKAN is relentlessly progressive. The clinical course is characterized by progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis. [emedicine.medscape.com]

Treatment with levodopa/carbidopa had limited effects only. Neuropsychiatric symptoms within the autistic and affective spectrum were present in the early phase of the disease. [ncbi.nlm.nih.gov]

Dopamine agonists Levodopa Deep brain stimulation Symptomatic treatment for dystonia and seizures A 33-year-old woman with a history of global developmental delay and generalized seizures in childhood presented at the age of 21 with parkinsonian symptoms [ajnr.org]

Since there are no treatments available and no cure for this devastating disease it is imperative that we raise awareness and get researchers the funds they need in order to continue to search for treatments, and hopefully eventually a cure! [sydneyssong.org]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

[…] based geneticist who specializes in research and treatment of neurodegeneration with brain iron accumulation, including BPAN. [berkshireeagle.com]

The specific course and prognosis should implicate restrained psychopharmacological interventions. The clinical picture and imaging hallmarks are often highly suggestive and should lead to suspect this specific disorder. [ncbi.nlm.nih.gov]

Early diagnosis of BPAN is of utmost importance, providing families with a direction for possible management and prognosis and preventing further unnecessary diagnostic testing. [pediatrics.aappublications.org]

(See Presentation and Prognosis.) [7, 8] The disease can be familial or sporadic. [emedicine.medscape.com]

Etiology The exact etiology of PKAN is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain. [emedicine.medscape.com]

Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet. PubMed PMID: 24973356 Guerreiro R, Wojtas A, Bras J, et al. TREM2 variants in Alzheimer's disease. N Engl J Med. [books.google.de]

Note that specific eponyms are applied to a particular clinical and electrographic profile and do not imply a specific etiology: many genetic and non-genetic etiologies can result in a given epilepsy syndrome. [ncbi.nlm.nih.gov]

[…] with brain iron accumulation type 4 - SENDA - Static encephalopathy of childhood with neurdegeneration in adulthood Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological [csbg.cnb.csic.es]

[…] definition according to the specific consensus conference or to The Diseases Database based on the Unified Medical Language System (NLM) and a link to: a) Wikipedia definition b) The Diseases Database Also the Mesh corresponding term has to be chosen EPIDEMIOLOGY [flipper.diff.org]

Epidemiology • Estimated prevalence of 1-3/ million population has been suggested based on observed cases in a population. • PKAN: highest prevalence & founder mutation in Central Europe • Neuroferritinopathy is classically seen in patients from the Cumbrian [slideshare.net]

Beta-Propeller Protein-Associated Neurodegeneration (BPAN) •Beta-propeller protein-associated neurodegeneration is unique among the NBIAs in its mode of inheritance, its presumed pathophysiology. [slideshare.net]

Our research unit “Molecular Pathophysiology of Neurodegenerative Disorders” has investigated the molecular pathogenesis of abnormal protein accumulation in the nervous system in neurodegenerative diseases to facilitate the analyses of pathogenic substances [ura.sec.tsukuba.ac.jp]

"Genetics and Pathophysiology of Neurodegeneration with Brain Iron Accumulation (NBIA)". primary. Current Neuropharmacology. 11 (1): 59–79. doi : 10.2174/157015913804999469. PMC 3580793. PMID 23814539. [en.wikipedia.org]

In addition, early identification of WDR45 mutation may lead to a better understanding of the pathophysiology of BPAN and result in the development of novel therapeutic interventions for preventing or delaying the onset of neurodegeneration for pediatric [pediatrics.aappublications.org]

Neurodegeneration with Brain Iron Accumulation: Genetic Diversity and Pathophysiological Mechanisms. Annu Rev Genomics Hum Genet. 2015 May 8. Abstract Berti CC, Dallabona, C, Lazzaretti M, Dusi S, Tosi E, Tiranti V, Goffrini P. [tircon.eu]

Currently, there is no known effective prevention or treatment of neurologic decline in BPAN. [pediatrics.aappublications.org]

It has been demonstrated that A2AR is able to prevent amyloid--induced synaptotoxicity in animal models and cell cultures. Moreover A2AR has been shown to control NMDA currents and glutamate outflow in the hippocampus. [oatd.org]

Basically, without evolution, the fledgling field of precision medicine would wither and die, and we would lose our opportunity to prevent, diagnose, and treat the diseases that account for the bulk of morbidity and mortality in humans and in animals.This [medworm.com]

To prevent him from regressing, his parents regularly work out with him. Elijah, who also helps clean at Berkshire Nautilus through his high school internship program, also exercises there. [berkshireeagle.com]

[…] dopaminergic drugs for parkinsonism for: Adverse neuropsychiatric effects Psychiatric symptoms Worsening of parkinsonism Nutrition Monitoring of height and weight in children Swallowing evaluation and regular dietary assessments Assure adequate nutrition Prevent [nbiacure.org]