"Neuroferritinopathy"

Conservative Iron Chelation for Neuroferritinopathy. Neuroferritinopathy is a rare inherited neurodegenerative disease with brain iron accumulation characterized by brain iron overload resulting in progressive movement disorders. No treatment is currently available. We assessed conservative iron chelation with deferiprone at 30 mg/kg/day on the disease progression with controlled periods of discontinuation. Four patients with confirmed molecular diagnosis of neuroferritinopathy were given deferiprone at different stages of disease progression and with clinical and biological monitoring to control benefit and risk. The four patients showed slight to high improvement. In one case, we managed to stabilize disease progression for more than 11 years. In another case, we were able to reverse symptoms

FTL mutation in a Chinese pedigree with neuroferritinopathy Neuroferritinopathy is a rare autosomal dominant movement disorder caused by mutations of the FTL gene.(1) It is clinically characterized by adult-onset progressive extrapyramidal syndrome, including chorea, dystonia, and parkinsonism.(2) Brain MRI demonstrates the deposition of iron and ferritin in the basal ganglia.(3) To date, several Caucasian families and 2 Japanese families have been reported worldwide.(2) We present a Chinese neuroferritinopathy pedigree with 5 patients and the FTL mutation.

Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management Neuroferritinopathy (NF) is a rare autosomal dominant disease caused by mutations in the ferritin light chain 1 (FTL1) gene leading to abnormal excessive iron accumulation in the brain, predominantly in the basal ganglia. A literature search was performed on Pubmed, for English-language articles, utilizing

A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation Neuroferritinopathy or hereditary ferritinopathy is an inherited neurodegenerative disease caused by mutations in ferritin light chain (FTL) gene. The clinical features of the disease are highly variable, and include a movement disorder, behavioral abnormalities, and cognitive impairment . Neuropathologically, the disease is characterized by abnormal iron and ferritin depositions in the central nervous system. 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. In the absence of classic clinical symptoms, the initial diagnosis

(dystonia, myoclonus, discrete chorea [101])Leigh's disease [63]SETX mutation (with motor neuron disease [94])Laurence-Moon-Biedl-Bardet syndrome [65]Friedreich ataxia [41]NBIA “neurodegeneration with brain iron accumulation” (umbrella term for e.g. Pantothenate kinase-associated neurodegeneration (PKAN 2), neuroferritinopathies (FTL), Aceruloplasminemia (CP), phospholipase-associated neurodegeneration ; but ~ 8% without positive family history [111]C9orf72 mutationsSpinocerebellar ataxia type 3, 2, 1, 7, 8, 12, 17, 48DRPLA (especially Japan)HDL2 (especially of African origin)Neuroferritinopathy (NBIA)NKX2-1 (benign course of the disease)Autosomal-recessive Wilson’s diseaseNeuroacanthocytosis Syndroms, VPS13A- and XK-disease /McLeod (CK, blood smear, chorein western blot)PLAN, PKAN2, aceruloplasminemia

Effect of Systemic Iron Overload and a Chelation Therapy in a Mouse Model of the Neurodegenerative Disease Hereditary Ferritinopathy. Mutations in the ferritin light chain (FTL) gene cause the neurodegenerative disease neuroferritinopathy or hereditary ferritinopathy (HF). HF is characterized by a severe movement disorder and by the presence of nuclear and cytoplasmic iron-containing ferritin

as a component, including Christianson syndrome, Niemann-Pick disease type C, neuroferritinopathy, ataxia-telangiectasia [72,73], Huntington disease, Friedreich ataxia [74-79], fragile X-associated tremor/ataxia syndrome [80,81], and the spinocerebellar ataxias [82-86]. CT Head CT is less sensitive and specific for comprehensive evaluation of these conditions compared to MRI

(MPAN), Kufor-Rakeb syndrome, Woodhouse-Sakati syndrome, and Aceruloplasminemia are all autosomal recessive; whereas Beta-propeller Protein-Associated Neurodegeneration (BPAN) is X-linked dominant and Neuroferritinopathy is autosomal dominant.In the United States, PKAN is the most common form of NBIA, comprising 50% of all NBIA cases. PLAN is the second most common, comprising 20% of all cases. [11

(MPAN), Kufor-Rakeb syndrome, Woodhouse-Sakati syndrome, and Aceruloplasminemia are all autosomal recessive; whereas Beta-propeller Protein-Associated Neurodegeneration (BPAN) is X-linked dominant and Neuroferritinopathy is autosomal dominant.In the United States, PKAN is the most common form of NBIA, comprising 50% of all NBIA cases. PLAN is the second most common, comprising 20% of all cases. [11

Huntington disease and Huntington disease-like in a case series from Brazil. The aim of this study was to identify the relative frequency of Huntington's disease (HD) and HD-like (HDL) disorders HDL1, HDL2, spinocerebellar ataxia type 2 (SCA2), SCA17, dentatorubral-pallidoluysian degeneration (DRPLA), benign hereditary chorea, neuroferritinopathy and chorea-acanthocytosis (CHAC), in a series in 89.4%, HDL2 in 3.8% and SCA2 in 1% of 104 Brazilian families. There were no cases of HDL1, SCA17, DRPLA, neuroferritinopathy, benign hereditary chorea or CHAC. Only six families (5.8%) remained without diagnosis.

Abnormal iron homeostasis and neurodegeneration Abnormal iron metabolism is observed in many neurodegenerative diseases, however, only two have shown dysregulation of brain iron homeostasis as the primary cause of neurodegeneration. Herein, we review one of these - hereditary ferritinopathy (HF) or neuroferritinopathy, which is an autosomal dominant, adult onset degenerative disease caused

identified. Brain iron accumulation is observed in the globus pallidus and other brain regions in NBIA diseases, which are often associated with severe dystonia and gait abnormalities. Only two of these diseases, aceruloplasminaemia and neuroferritinopathy, are directly caused by abnormalities in iron metabolism, mainly in astrocytes and neurons, respectively. Understanding the early molecular

, such as Friedreich's ataxia or neuroferritinopathy are associated with genetic factors that cause Fe misregulation. Consequently, excessive intracellular Fe increases oxidative stress, which leads to neuronal dysfunction and death. The characterization of the mechanisms involved in the misregulation of Fe in the brain is crucial to understand the pathology of the neurodegenerative disorders and develop new

A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: Description of clinical features and implications for genotype-phenotype correlations. Neuroferritinopathy is a hereditary neurodegenerative disorder caused by mutations in the ferritin light chain gene (FTL1). The cardinal features are progressive movement disturbance, hypoferritinemia, and iron deposition

T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurodegeneration with brain iron accumulation (NBIA) defines a group of genetic disorders characterized by brain iron deposition and associated with neuronal death. The known causes of NBIA include pantothenate kinase-associated neurodegeneration (PKAN), neuroferritinopathy, infantile neuroaxonal dystrophy (INAD), and aceruloplasminemia. To define the radiologic features of each NBIA subtype. Brain MRIs from patients with molecularly confirmed PKAN (26 cases), neuroferritinopathy (21 cases), INAD (four cases), and aceruloplasminemia (10 cases) were analyzed blindly to delineate patterns of iron deposition and neurodegeneration. In most cases of PKAN, abnormalities were restricted to globus

Indian-subcontinent NBIA: Unusual phenotypes, novel PANK2 mutations, and undetermined genetic forms. Neurodegeneration with brain iron accumulation (NBIA) is etiologically, clinically, and by imaging a heterogeneous group including NBIA types 1 [pantothenate kinase-associated neurodegeneration (PKAN)] and 2 (PLA2G6-associated neurodegeneration), neuroferritinopathy, and aceruloplasminaemia. Data

neuroaxonal dystrophy (INAD) and atypical neuroaxonal dystrophy (atypical NAD) (see these terms); or later onset with slower progression: atypical PKAN, neuroferritinopathy and aceruloplasminemia (see these terms). Idiopathic NBIA can have either type of onset and progression.EtiologyClassic and atypical PKAN are caused by mutations in the PANK2 gene (20p13-p12.3), infantile and atypical neuroaxonal dystrophy are caused by mutation in the PLA2G6 gene (22q13.1), aceruloplasminemia is caused by mutation of the ceruloplasmin (CP) gene (3q23-q24) and neuroferritinopathy is caused by mutations in the ferritin light chain (FTL1) gene (19q13.3-q13.4). Idiopathic NBIA is likely caused by several additional, as yet undiscovered genes.Diagnostic methodsThis heterogeneous group of disorders can

Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. The authors identified a missense mutation in the FTL gene (474G>A; A96T) in a 19-year-old man with parkinsonism, ataxia, corticospinal signs, mild nonprogressive cognitive deficit, and episodic psychosis. This mutation was also present in his asymptomatic mother and younger brother, who had

Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Neuroferritinopathy is a progressive potentially treatable adult-onset movement disorder caused by mutations in the ferritin light chain gene (FTL1). Features overlap with common extrapyramidal disorders: idiopathic torsion dystonia, idiopathic Parkinson's disease and Huntington's disease the disease course. Serum ferritin levels were low in the majority of males and post-menopausal females, but within normal limits for pre-menopausal females. MR brain imaging was abnormal on all affected individuals and one presymptomatic carrier. In conclusion, isolated parkinsonism is unusual in neuroferritinopathy, and unlike Huntington's disease, cognitive changes are absent or subtle in the early

Spectrum of movement disorders in neuroferritinopathy. Neuroferritinopathy is a recently recognized, dominantly inherited movement disorder caused by a mutation of the ferritin light chain gene. We present video case reports of 4 individuals with neuroferritinopathy chosen to illustrate how this disorder can present and subsequently progress clinically. The clinical phenotype of this disorder is highly variable with symptoms beginning in the third to sixth decades. Chorea, dystonia, or an akinetic-rigid syndrome can predominate in different individuals. Neuroferritinopathy is not restricted to the UK and it has been described in apparently sporadic cases. The diagnosis should therefore be considered in patients with a wide variety of different movement disorders. Characteristic neuroimaging