We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically.[ncbi.nlm.nih.gov]
It presents in mid-adult life and is the only autosomal dominant disease in a group of conditions termed neurodegeneration with brain iron accumulation (NBIA). We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers.[ncbi.nlm.nih.gov]
We present five new cases of this condition and review the current understanding of the pathogenesis and its clinical findings.[ncbi.nlm.nih.gov]
Here we present the structural aspects of the two mutations, as well studies on cellular models aimed at understanding the molecular basis of the disorder.[ncbi.nlm.nih.gov]
Here, we review the main characteristics of neuroferritinopathy and present a computational analysis of some representative recently defined mutations with the purpose to gain new information about the pathogenetic mechanism of the disorder.[ncbi.nlm.nih.gov]
While 35% developed facial hypomimia and bradykinesia not directly related to their dystonia; only one individual developed a pure rest tremor, and another had tremor present at rest and on intention.[academic.oup.com]
Children with PKAN typically manifest gait problems around age 3 and later develop progressive dystonia, dysarthria, rigidity, spasticity, hyperreflexia and extensor toe signs.[nbiaalliance.org]
With the exception of the reported cerebellarsigns, the clinical presentation of the patients with the 498InsTC and 646InsC mutations fall within the spectrum we have seen in patients with 460InsA.[academic.oup.com]
(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]
The disorder provides a direct link between disordered iron storage and a neurodegenerative disease, opening new avenues for treatment by altering brain iron stores in addition to symptomatic treatments such as local Botulinum toxin and oral anti oxidants[ncbi.nlm.nih.gov]
All three harbouring the pathogenic c.460InsA mutation showed iron deposition; these findings show pathological iron accumulation begins in early childhood which is of major importance in understanding and developing treatment for NBIA.[ncbi.nlm.nih.gov]
Since its discovery in 2001, there have been significant developments in our understanding of the pathological, radiological, and clinical aspects of the condition, though several key pathomechanistic questions, and crucially treatment paradigms, remain[ncbi.nlm.nih.gov]
[…] and prognosis No disease-specific treatment is available and symptomatic management is recommended 2 .[radiopaedia.org]
Treatment: Treatment of manifestations: Standard doses of levodopa, tetrabenazine, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, and Deanol for the movement disorder; botulinum toxin for painful focal dystonia.[medigoo.com]
[…] caudate, substantia nigra, and cerebellar nuclei, these are reflective of cystic changes 3 T1 : hypointense ring surrounding aforementioned cystic changes 3 GRE/SWI : markedly hypointense ring surrounding aforementioned cystic changes 3 Treatment and prognosis[radiopaedia.org]
Management and prognosis Monitoring Asymptomatic patients with proven homozygosity for C282Y Yearly exam of skin, heart, liver, joins, and (in men) testes iron %sat Patients with hereditary hemochromatosis hepatic cirrhosis Q6mo serum AFP and liver ultrasound[faculty.washington.edu]
(See Presentation and Prognosis.) [7, 8 ] The disease can be familial or sporadic.[emedicine.medscape.com]
This chapter summarizes the genetic etiology, pathological, radiological, and clinical data from all published data to date and suggested potential new avenues for therapy.[ncbi.nlm.nih.gov]
Non-genetic etiologies are discussed, including medications, structural lesions, psychogenic causes, and metabolic abnormalities. This book describes in detail the latest clinical and etiological information regarding the causes of chorea.[books.google.com]
This book describes in detail the latest clinical and etiological information regarding chorea. Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed.[books.google.com]
Treatment Due to neuroferritinopathy’s genetic etiology, the disorder is not currently curable. Furthermore, progression of the disorder is unable to be effectively halted. Therefore current treatment focuses on managing symptoms of the disorder.[dict.eudic.net]
Epidemiology Map of England Neuroferritinopathy was first discovered in 2001, with its first case being reported in Cumbria from Northern England.[dict.eudic.net]
Symptoms affecting movement (dystonia) have also been treated with L-Dopa , orphenadrine , benzhexol , sulpiride , diazepam , clonazepam , and deanol . [4] Parkinsonian symptoms were not decreased by L-Dopa . [1] Iron supplements should be avoided. [4] Epidemiology[en.wikipedia.org]
[…] affecting movement (dystonia) have also been treated with L-Dopa , orphenadrine , benzhexol , sulpiride , diazepam , clonazepam , and deanol . [ 4 ] Parkinsonian symptoms were not decreased by L-Dopa . [ 1 ] Iron supplements should be avoided. [ 4 ] Epidemiology[research.omicsgroup.org]
The 460InsA insertion was not present in the 100 anonymized samples from the Cumbrian population collected as part of a resource for genetic epidemiology.[academic.oup.com]
Management strategies, pathophysiology, and associated medical and psychiatric problems associated with chorea are also addressed.[books.google.com]
Psychopathology, management, and pathophysiology of chorea, are also addressed.[books.google.com]
This raises the possibility that mitochondrial dysfunction may play an important part in the pathophysiology of neuroferritinopathy.[jmg.bmj.com]
In some cases it is the main element of the disease while in others, such as Alzheimer's or Parkinsons disease , its alteration has been reported but its exact pathophysiological significance remains unknown. Aims.[pesquisa.bvsalud.org]
Prevention of secondary complications: Adequate caloric intake; physiotherapy to maintain mobility and prevent contractures. Agents/circumstances to avoid: Iron supplements are not recommended. NOTE: The above information is for processing purpose.[medigoo.com]
Long-term surveillance for neuroferritinopathy can include: Regular assessment of nutrition and caloric intake Physiotherapy to maintain mobility and prevent contractures (permanent tightening of a muscle or joint).[nbiacure.org]
Ferritin stores essential iron inside cells and prevents the iron causing damage. The error leads to large amounts of iron and ferritin collecting in the cells and causing problems with body movements.[news.bbc.co.uk]