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

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]

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

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]

Global cognitive decline = cognitive deficits in all modalities present. [academic.oup.com]

• Asymptomatic

  We performed brain MRI scans on 12 asymptomatic descendants of known mutation carriers. [ncbi.nlm.nih.gov]

  His 40-year-old mother also harboured the same mis-sense mutation and was asymptomatic ( Maciel et al ., 2005 ). [academic.oup.com]

  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]

  Retinal macular degeneration is usually asymptomatic 28, 29. Neurological symptoms develop later in the disease, around the sixth decade of life. [scielo.br]

• Weakness

  Onset occurs in childhood to early adulthood with dystonia, spasticity, weakness, optic atrophy and neuropsychiatric changes. [nbiaalliance.org]

  Some individuals with aceruloplasminemia develop mild anemia (low levels of circulating red blood cells), which can cause fatigue, weakness, shortness of breath and pale skin. [rarediseases.org]

  Gait instability or visual impairment are often the initial symptoms, then followed by muscular weakness and atrophy, dystonia, and dysarthria. [doi.org]

• Hypotension

  progressive Progressive dementia [ more ] 0000726 Developmental regression Loss of developmental milestones Mental deterioration in childhood [ more ] 0002376 Dysphagia Poor swallowing Swallowing difficulties Swallowing difficulty [ more ] 0002015 Hypotension [rarediseases.info.nih.gov]

  QT-prolonging drugs Hypokalemia Certain neurologic conditions including subarachnoid bleed Structural heart disease For syncope or sudden death in the young: Sudden infant death syndrome (SIDS) Drug-induced QT prolongation Vasovagal syncope (orthostatic hypotension [centogene.com]

• Behavior Disorder

  […] abnormality Behavioral changes Behavioral disorders Behavioral disturbances Behavioral problems Behavioral/psychiatric abnormalities Behavioural/Psychiatric abnormality Psychiatric disorders Psychiatric disturbances [ more ] 0000708 Constipation 0002019 [rarediseases.info.nih.gov]

• 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]

• Cerebellar Ataxia

  We report a family in which neuroferritinopathy begins with chronic headaches, later developing progressive orolingual and arm dystonia, dysarthria, cerebellar ataxia, pyramidal tract signs, and psychiatric symptoms. [ncbi.nlm.nih.gov]

  Fogel BL, Perlman S (2007) Clinical features and molecular genetics of autosomal recessive cerebellar ataxias. Lancet Neurol 6(3):245–257 PubMed CrossRef Google Scholar 22. [link.springer.com]

  In most recessive conditions, individuals with one working gene and one gene for the disease (carriers) do not develop symptoms, however, in aceruloplasminemia carriers may, in rare cases develop cerebellar ataxia (problems coordinating movements). [rarediseases.org]

  Cerebellar ataxia associated with heteroallelic ceruloplasmin gene mutation. Neurology. 2001;57(12):2205-10. doi:10.1212/WNL.57.12.2205 https://doi.org/10.1212/WNL.57.12.2205.... [scielo.br]

  A male with a 2 bp insertion in exon 4 of FTL1 (498InsTC) presented aged 20 with tremor followed by cerebellar signs aged 47 (dysarthria and ataxia, but no nystagmus), frontal/sub-cortical cognitive impairment, dyskinesia (described as involuntary movement [academic.oup.com]

• Bradykinesia

  She has brisk tendon reflexes with bradykinesia. Laboratory blood tests were normal and MRI brain revealed hypointensity in the globus pallidus, substantia nigra and dentate nuclei on SWI (Figure2). [mdsabstracts.org]

  Symptoms are restricted to the nervous system and include chorea, dystonia, bradykinesia, dystonic dysarthria, and Parkinsonian features. [orpha.net]

  Showing of 45 | 80%-99% of people have these symptoms Chorea 0002072 Spastic diplegia 0001264 30%-79% of people have these symptoms Bradykinesia Slow movements Slowness of movements [ more ] 0002067 Dysphonia Inability to produce voice sounds 0001618 [rarediseases.info.nih.gov]

  […] progresses to other limbs within 5-10 years Onset is often asymmetrical (occurs differently in bilateral limbs or muscles) If asymmetry occurs, it will remain throughout the course of the disease Parkinsonism (symptoms similar to Parkinson’s disease) Bradykinesia [nbiacure.org]

• Global Developmental Delay

  Affected individuals have global developmental delay during childhood with slow motor and cognitive gains. However, during adolescence or adulthood, they experience a relatively sudden onset of progressive dystonia-parkinsonism and dementia. [nbiaalliance.org]

  The early onset phenotype includes neurological symptoms similar to Rett-like syndrome: epilepsy, sleep disorders and global developmental delay, followed by a rapid progressive onset of parkinsonism, dystonia, and dementia 14, 42. [scielo.br]

  The clinical pattern is characterized by global developmental delay and intellectual deficiency in early childhood then followed by further neurological and cognitive regression in late adolescence or early adulthood, with parkinsonism, dystonia, and [doi.org]

• 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]

  Spasticity and hyperreflexia as well as retinopathy are often present. The atypical form most commonly presents in the second decade of life and its clinical features are less homogeneous, with less severe extrapyramidal and pyramidal signs. [doi.org]

• Areflexia

  The 646InsC mutation was identified in a 63-year-old man presenting with chorea, limb ataxia, areflexia and bilateral extensor plantar responses ( Mancuso et al ., 2005 ). [academic.oup.com]

  The typical clinical presentation of aNAD include early-onset (older than INAD) ataxia and dysarthria, hypotonia, areflexia, dystonia and cognitive impairment 1, 20. Children with aNAD may develop optic atrophy 19. [scielo.br]

(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]

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]

[…] 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]

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]

[…] 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 [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]

Department Medical specialty News Contact User login Username or e-mail * Password * Request new password × Your name * Your e-mail address * Subject * Category * Message * CAPTCHA This question is for testing whether or not you are a human visitor and to prevent [karyo.gr]

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]

Genetic or pharmacological iron chelation prevents MPTP-induced neurotoxicity in vivo : a novel therapy for Parkinson's disease. Neuron 27, 899–909 (2003). [doi.org]