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]

Methods : case work up Results : Family 1: A 31 year old female presented with complaints of abnormal movements for last 5 years, starting in her right leg and progressing rapidly to other limbs. [mdsabstracts.org]

The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. [academiccommons.columbia.edu]

The most frequent presentation is with chorea (50%), followed by dystonia (42.5 %) and parkinsonism (7.5%). [eurekaselect.com]

Clinical description The disease presents typically in the fourth to sixth decades, although cases with symptoms in their late teens have been observed. [orpha.net]

• Hypomimia

  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]

• Babinski Sign

  Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. [rarediseases.info.nih.gov]

  […] of the face, resembling tardive dyskinesia, evolving into dystonic posturing and buccolingual dyskinesia), brisk tendon reflexes and Babinski signs ( Vidal et al ., 2004 ). [academic.oup.com]

• Cerebellar Sign

  With the exception of the reported cerebellar signs, 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]

• Hyperreflexia

  […] ferritin Low ferritin level Reduced serum ferritin [ more ] 0012343 Disinhibition 0000734 Dysarthria Difficulty articulating speech 0001260 Dyskinesia Disorder of involuntary muscle movements 0100660 Emotional lability Emotional instability 0000712 Hyperreflexia [rarediseases.info.nih.gov]

  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]

• Micrographia

  […] articulating speech 0001260 Dyskinesia Disorder of involuntary muscle movements 0100660 Emotional lability Emotional instability 0000712 Hyperreflexia Increased reflexes 0001347 Hypomimic face Dull facial expression 0000338 Laryngeal dystonia 0012049 Micrographia [rarediseases.info.nih.gov]

• Generalized Seizure

  Human L-ferritin deficiency is characterized by idiopathic generalized seizures and atypical restless leg syndrome. J Exp Med. 2013;210:1779–91. [ncbi.nlm.nih.gov]

(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]

Management and treatment Treatment is of the manifestations of the disease and includes levodopa, tetrabenazine, benzhexol, sulpiride, diazepam, clonezepam and deanol for the movement disorder and botulinum toxin for painful focal dystonia. [orpha.net]

[…] and prognosis No disease-specific treatment is available and symptomatic management is recommended 2. [radiopaedia.org]

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]

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]

Prognosis The movement disorder is progressive, involving additional limbs in five to ten years and becoming more generalized within 20 years. The documents contained in this web site are presented for information purposes only. [orpha.net]

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 [faculty.washington.edu]

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

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 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]

Etiology Neuroferritinopathy is caused by mutations in the ferritin light chain ( FTL ) gene (19q13.3-q13.4) and is inherited in an autosomal dominant manner with high penetrance. [orpha.net]

Summary Epidemiology Prevalence of neuroferritinopathy is unknown. To date fewer than 50 cases have been reported. [orpha.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 [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]

The relevant articles were reviewed with a focus on the pathophysiology, clinical presentation, differential diagnoses, and management of NF. [academiccommons.columbia.edu]

In some cases it is the main element of the disease while in others, such as Alzheimer's or Parkinson’s 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]

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]

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]

Antioxidants such as vitamin E have been used along with an iron chelator or with oral zinc sulfate to prevent tissue damage in individuals with aceruloplasminemia. [rarediseases.org]

Iron chelation therapy to prevent the manifestations of aceruloplasminemia. Neurology. 2015;85(12):1085-6. doi:10.1212/WNL.0000000000001956 [ Links ] 40. [scielo.br]