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Synonym: Hereditary Ferritinopathy

, BMedSci, MBBS, PhD, FRCPath, FRCP, FMedSci.

Author Information

Initial Posting: ; Last Update: January 18, 2018.

Estimated reading time: 15 minutes


Clinical characteristics.

Neuroferritinopathy typically presents with progressive adult-onset chorea or dystonia affecting one or two limbs, and subtle cognitive deficits. The movement disorder affects additional limbs within five to ten years and becomes more generalized within 20 years. When present, asymmetry remains throughout the course of the disorder. The majority of individuals develop a characteristic orofacial action-specific dystonia related to speech that leads to dysarthrophonia. Frontalis overactivity and orolingual dyskinesia are common. Cognitive deficits and behavioral issues become major problems with time.


The diagnosis of neuroferritinopathy is established in a proband with typical clinical findings and/or identification of a heterozygous pathogenic variant in FTL by molecular testing.


Treatment of manifestations: While the movement disorder is particularly resistant to conventional therapy, some response has been recorded with levodopa, tetrabenazine, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, and deanol in standard doses; botulinum toxin may be helpful for painful focal dystonia.

Prevention of secondary complications: Adequate caloric intake; physiotherapy to maintain mobility and prevent contractures.

Agents/circumstances to avoid: Iron supplements are not recommended.

Genetic counseling.

Neuroferritinopathy is inherited in an autosomal dominant manner with 100% penetrance. Most individuals diagnosed with neuroferritinopathy have an affected parent; the proportion of cases caused by de novo pathogenic variants is unknown. Each child of an individual with neuroferritinopathy has a 50% chance of inheriting the pathogenic variant. Prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible if the FTL pathogenic variant in the family is known.


Suggestive Findings

Neuroferritinopathy should be suspected in individuals with the following:

  • Adult-onset progressive movement disorder (either chorea or dystonia)
  • Family history consistent with autosomal dominant transmission
  • Evidence of excess iron storage on brain MRI, and in advanced cases, cystic degeneration apparent on MRI (see Figure 1)
Figure 1. a.

Figure 1

a. Non-contrast brain CT symmetric low signal in the putamina b. T2-weighted MRI image showing cystic change involving the putamina and globus pallidi and with increased signal in the heads of the caudate nuclei [Crompton et al 2005]

Establishing the Diagnosis

The diagnosis of neuroferritinopathy is established in a proband with typical clinical findings and/or identification of a heterozygous pathogenic variant in FTL by molecular genetic testing (see Table 1).

Molecular genetic testing approaches can include single-gene testing, use of a multigene panel, and more comprehensive genomic testing:

  • Single-gene testing. Sequence analysis of FTL is performed first and followed by gene-targeted deletion/duplication analysis if no pathogenic variant is found.
    Note: Since neuroferritinopathy is thought to occur through a gain-of-abnormal-function mechanism and large intragenic deletion or duplication has not been reported, testing for intragenic deletions or duplication is unlikely to identify a disease-causing variant.
    Targeted analysis for pathogenic variants can be performed first in individuals of United Kingdom (UK) ancestry.
  • A multigene panel that includes FTL and other genes of interest (see Differential Diagnosis) may be considered. Note: (1) The genes included in the panel and the diagnostic sensitivity of the testing used for each gene vary by laboratory and are likely to change over time. (2) Some multigene panels may include genes not associated with the condition discussed in this GeneReview; thus, clinicians need to determine which multigene panel is most likely to identify the genetic cause of the condition at the most reasonable cost while limiting identification of variants of uncertain significance and pathogenic variants in genes that do not explain the underlying phenotype. (3) In some laboratories, panel options may include a custom laboratory-designed panel and/or custom phenotype-focused exome analysis that includes genes specified by the clinician. (4) Methods used in a panel may include sequence analysis, deletion/duplication analysis, and/or other non-sequencing-based tests.
    For an introduction to multigene panels click here. More detailed information for clinicians ordering genetic tests can be found here.
  • More comprehensive genomic testing (when available) including exome sequencing and genome sequencing may be considered. Such testing may provide or suggest a diagnosis not previously considered (e.g., mutation of a different gene or genes that results in a similar clinical presentation). For an introduction to comprehensive genomic testing click here. More detailed information for clinicians ordering genomic testing can be found here.

Table 1.

Molecular Genetic Testing Used in Neuroferritinopathy

Gene 1MethodProportion of Probands with a Pathogenic Variant 2 Detectable by Method
FTL Sequence analysis 3100%
Gene-targeted deletion/duplication analysis 4None reported 5

See Molecular Genetics for information on allelic variants detected in this gene.


Sequence analysis detects variants that are benign, likely benign, of uncertain significance, likely pathogenic, or pathogenic. Variants may include small intragenic deletions/insertions and missense, nonsense, and splice site variants; typically, exon or whole-gene deletions/duplications are not detected. For issues to consider in interpretation of sequence analysis results, click here.


Gene-targeted deletion/duplication analysis detects intragenic deletions or duplications. Methods used may include quantitative PCR, long-range PCR, multiplex ligation-dependent probe amplification (MLPA), and a gene-targeted microarray designed to detect single-exon deletions or duplications.


Neuroferritinopathy occurs through a gain-of-abnormal-function mechanism; therefore, large intragenic deletions or duplications are unlikely to cause disease.

Clinical Characteristics

Clinical Description

Presentation and progression. Neuroferritinopathy typically presents in adult life (mean age 40 years) [Chinnery et al 2007], although onset in early teenage years and in the sixth decade has been reported.

The two presenting phenotypes are typically chorea or dystonia affecting one or two limbs, although one individual presented with late-onset parkinsonism [Curtis et al 2001, Burn & Chinnery 2006, Chinnery et al 2007] and two families with cerebellar features [Vidal et al 2004, Devos et al 2009] (see Table 2). Unusual presentations have also been described, related to an underlying dystonic gait [Keogh et al 2011, Nishida et al 2014].

The movement disorder is progressive, involving additional limbs in five to ten years and becoming more generalized within 20 years [Crompton et al 2005].

  • Some individuals have striking asymmetry, which remains throughout the course of the disorder.
  • The majority of individuals develop a characteristic orofacial action-specific dystonia related to speech and leading to dysarthrophonia.
  • Frontalis overactivity is common, as is orolingual dyskinesia [Crompton et al 2005].
  • Eye movements are well preserved throughout the disease course.

Subtle cognitive deficits are apparent in most individuals from the outset [Crompton et al 2005]. Formal neuropsychometry reveals frontal/subcortical deficits [Wills et al 2002] that are not as prominent as those seen in Huntington disease. The cognitive and behavioral component eventually becomes a major problem.

Table 2.

Clinical Findings in Individuals with Neuroferritinopathy

Clinical FindingNumberPercent
Asymmetry of movement disorder25/4062.5%
Speech &
Orolingual dyskinesia26/4065%
Eyes Abnormal EOM3/407.5%
Abnormal fundi0/400%
Motor Bradykinesia14/4035.5%
Normal strength in nondystonic limbs40/40100%
Increased tendon reflexes7/4017.5%
Babinski reflex0/400%

In 40 individuals with the FTL c.460dupA pathogenic variant [Chinnery et al 2007]

EOM = extraocular muscle (function)

Neuroimaging. From the outset, all affected individuals have evidence of excess brain iron accumulation on T2*-weighted MRI. The iron deposition may be missed on other MR sequences in early stages of the disease. Later stages are associated with high signal on T2-weighted MRI in the caudate, globus pallidus, putamen, substantia nigra, and red nuclei, followed by cystic degeneration in the caudate and putamen. Neuroferritinopathy has a characteristic appearance, distinguishing it from other disorders associated with brain iron accumulation [McNeill et al 2008] and associated with progressive iron accumulation on MRI [McNeill et al 2012], including the "eye of the tiger" sign [McNeill et al 2012] and other radiologic features [Batla et la 2015].

Histopathologic examination of three individuals with the 460dupA pathogenic variant confirmed evidence of abnormal iron accumulation throughout the brain and particularly in the basal ganglia [Hautot et al 2007]. Affected regions contain iron and ferritin-positive spherical inclusions, often co-localizing with microglia, oligodendrocytes, and neurons. Axonal swellings (neuroaxonal spheroids) that were immunoreactive to ubiquitin, tau, and neurofilaments were also present. Mancuso et al [2005] report similar neuropathologic findings in a person with c.442dupC in FTL.

Serum ferritin. Serum ferritin concentrations were low (<20 µg/L) in the majority of males and postmenopausal females but within normal limits for premenopausal females [Chinnery et al 2007].


Penetrance is 100% [Chinnery et al 2007].


Prevalence is unknown. The majority of individuals described to date have the same pathogenic variant in FTL. Evidence suggests that they have descended from a common UK founder [Chinnery et al 2003], although the identification of a person from the state of Texas with German ancestry raises the possibility of a recurrent 460dupA pathogenic variant [Ondo et al 2010].

Differential Diagnosis

Table 3.

Other Disorders to Consider in the Differential Diagnosis of Neuroferritinopathy

DiffDx DisorderGene(s)MOIClinical Features of the DiffDx Disorder
Overlapping w/neuroferritinopathyDistinguishing from neuroferritinopathy
Huntington disease HTT ADFamily history consistent w/AD inheritanceEarly neuropsychiatric features; brain imaging distinguishes diagnoses.
Spinocerebellar ataxia type 17 (SCA17) TBP ADFamily history consistent w/AD inheritanceSpasticity (absent in neuroferritinopathy)
Early-onset primary dystonia (DYT1)TOR1A 1ADGeneralized dystoniaChorea uncommon; no psychiatric features
Chorea-acanthocytosis VPS13A AROrofacial dyskinesiaImpaired reflexes (preserved in neuroferritinopathy)
McLeod neuroacanthocytosis syndrome XK XLOrofacial dyskinesiaAbsent deep tendon reflexes (preserved in neuroferritinopathy)
SCA2 ATXN2 ADDystoniaAtaxia & neuropathy (a minor feature & absent, respectively, in neuroferritinopathy)
SCA3 ATXN3 ADDystonia, chorea, orofacial movement disorderSpasticity (absent in neuroferritinopathy)
Parkin-type of juvenile-onset Parkinson disease PRKN AREarly-onset movement disorderDifferent MRI findings
Aceruloplasminemia CP AREarly-onset movement disorderDifferent MRI findings
Neimann-Pick type C NPC1
AREarly-onset movement disorderDifferent MRI findings
Pantothenate kinase-associated neurodegeneration PANK2 ARVery similar MRI findings incl "eye of the tiger" signAR inheritance; earlier onset
Mitochondrial disorders (see Mitochondrial Disease Overview)VariousVariousBasal ganglia abnormalities on MRIDifferent MRI findings
Infantile neuroaxonal dystrophy PLA2G6 ARImaging findings resembling but distinct from neuroferritinopathyAR inheritance; earlier onset

AD = autosomal dominant; AR = autosomal recessive; DiffDx = differential diagnosis; MOI = mode of inheritance; XL = X-linked


Specifically the c.904_906delGAG (NM_000113​.2) pathogenic variant in TOR1A [Crompton et al 2005]

Neuroferritinopathy shares similar MRI appearances and clinical presentation of several other neurodegenerative disorders with brain iron accumulation (NBIA). However, the age of onset, inheritance pattern, and T2*-weighted MRI results can be used to distinguish these disorders [McNeill et al 2008]. See Neurodegeneration with Brain Iron Accumulation Disorders Overview.


Evaluations Following Initial Diagnosis

To establish the extent of disease in an individual diagnosed with neuroferritinopathy, the following evaluations are recommended if they have not already been completed:

  • Psychometric assessment
  • Physiotherapy evaluation
  • Speech therapy assessment
  • Dietary assessment because weight loss may develop in the late stages of the disorder
  • Consultation with a clinical geneticist and/or genetic counselor

Treatment of Manifestations

The movement disorder is particularly resistant to conventional therapy, but some response has been recorded with levodopa, tetrabenazine, orphenadrine, benzhexol, sulpiride, diazepam, clonazepam, and deanol in standard doses [Chinnery et al 2007, Ondo et al 2010]. However, no formal treatment trials have been carried out. Specific drugs are tried empirically based on the predominant symptoms. It is important to note that the predominant symptoms will change over time, requiring an adjustment of the medication. Such treatment is best managed by a clinician with expertise in movement disorders.

Botulinum toxin is helpful for painful focal dystonia.

Prevention of Secondary Complications

Dietary assessment is helpful; affected individuals should maintain caloric intake.

Physiotherapy helps to maintain mobility and prevent contractures.

Agents/Circumstances to Avoid

Iron supplements are not recommended for affected individuals and those at risk. This recommendation is empiric [Chinnery et al 2007]. Iron replacement therapy with careful monitoring may be required if affected individuals develop coincidental iron deficiency anemia. There is no evidence to support avoidance of iron-rich foods by affected individuals [Author, personal observation].

Evaluation of Relatives at Risk

See Genetic Counseling for issues related to testing of at-risk relatives for genetic counseling purposes.

Therapies Under Investigation

Search in the US and EU Clinical Trials Register in Europe for access to information on clinical studies for a wide range of diseases and conditions. Note: There may not be clinical trials for this disorder.

Genetic Counseling

Genetic counseling is the process of providing individuals and families with information on the nature, mode(s) of inheritance, and implications of genetic disorders to help them make informed medical and personal decisions. The following section deals with genetic risk assessment and the use of family history and genetic testing to clarify genetic status for family members; it is not meant to address all personal, cultural, or ethical issues that may arise or to substitute for consultation with a genetics professional. —ED.

Mode of Inheritance

Neuroferritinopathy is inherited in an autosomal dominant manner.

Risk to Family Members

Parents of a proband

  • Most individuals diagnosed with neuroferritinopathy have an affected parent.
  • A proband with neuroferritinopathy may have the disorder as the result of a de novo pathogenic variant. The proportion of cases caused by de novo pathogenic variants is unknown.
  • Recommendations for the evaluation of parents of a proband with an apparent de novo pathogenic variant include brain MRI, measurement of serum ferritin concentration, and molecular genetic testing if the FTL pathogenic variant has been identified in the proband.
  • If the pathogenic variant found in the proband cannot be detected in leukocyte DNA of either parent, possible explanations include a de novo pathogenic variant in the proband or germline mosaicism in a parent. Though theoretically possible, no instances of germline mosaicism have been reported.
  • The family history of some individuals diagnosed with neuroferritinopathy may appear to be negative because of failure to recognize the disorder in family members, early death of the parent before the onset of symptoms, or late onset of the disease in the affected parent. Therefore, an apparently negative family history cannot be confirmed unless molecular genetic testing has been performed on the parents of the proband.

Sibs of a proband. The risk to the sibs of the proband depends on the genetic status of the proband's parents:

  • If a parent of the proband is affected, the risk to the sibs is 50%.
  • If the parents have been tested for the FTL pathogenic variant identified in the proband and:
    • A parent of the proband has the FTL pathogenic variant, the risk to the sibs of inheriting the variant is 50%. There may be differences in the age of onset and rate of progression, but the disorder has 100% penetrance.
    • The FTL pathogenic variant found in the proband cannot be detected in the leukocyte DNA of either parent, the risk to sibs is presumed to be approximately 1% because of the theoretic possibility of parental germline mosaicism.
  • If the parents have not been tested for the FTL pathogenic variant but are clinically unaffected, the risk to the sibs of a proband appears to be low. The sibs of a proband with clinically unaffected parents are still at increased risk for neuroferritinopathy because of the theoretic possibility of parental germline mosaicism.

Offspring of a proband. Each child of an individual with neuroferritinopathy has a 50% chance of inheriting the FTL pathogenic variant. There may be differences in the age of onset and rate of progression of the disorder between members of the same family.

Other family members. The risk to other family members depends on the status of the proband's parents: if a parent is affected or has the FTL pathogenic variant, his or her family members are at risk.

Related Genetic Counseling Issues

Testing of at-risk asymptomatic adults. Testing of at-risk asymptomatic adult family members requires prior identification of the FTL pathogenic variant in the family. Such testing is not useful in accurately predicting age of onset, severity, type of symptoms, or rate of progression in asymptomatic individuals. When testing at-risk individuals for neuroferritinopathy, an affected family member should be tested first to confirm the molecular diagnosis in the family.

Testing for the pathogenic variant in the absence of definite symptoms of the disease is predictive testing. At-risk asymptomatic adult family members may seek testing in order to make personal decisions regarding reproduction, financial matters, and career planning. Others may have different motivations including simply the "need to know." Testing of asymptomatic at-risk adult family members usually involves pre-test interviews in which the motives for requesting the test, the individual's knowledge of neuroferritinopathy, the possible impact of positive and negative test results, and neurologic status are assessed. Those seeking testing should be counseled regarding possible problems that they may encounter with regard to health, life, and disability insurance coverage, employment and educational discrimination, and changes in social and family interaction. Other issues to consider are implications for the at-risk status of other family members. Informed consent should be procured and records kept confidential. Individuals with a positive test result need arrangements for long-term follow up and evaluations.

Molecular genetic testing of asymptomatic children (in the US defined as individuals age <18 years) who are at risk for adult-onset disorders for which no treatment exists is not considered appropriate, primarily because it negates the autonomy of the child with no compelling benefit. Further, concern exists regarding the potential unhealthy adverse effects that such information may have on family dynamics, the risk of discrimination and stigmatization in the future, and the anxiety that such information may cause.

In a family with an established diagnosis of neuroferritinopathy, genetic testing is always indicated in affected or symptomatic individuals regardless of age.

For more information, see also the National Society of Genetic Counselors position statement on genetic testing of minors for adult-onset conditions and the American Academy of Pediatrics and American College of Medical Genetics and Genomics policy statement: ethical and policy issues in genetic testing and screening of children.

Considerations in families with an apparent de novo pathogenic variant. When neither parent of a proband with an autosomal dominant condition has a pathogenic variant identified in the proband or clinical evidence of the disorder, it is likely that the proband has the disorder as a result of a de novo pathogenic variant. However, non-medical explanations including alternate paternity or maternity (e.g., with assisted reproduction) and undisclosed adoption could also be explored.

Family planning

  • The optimal time for determination of genetic risk and discussion of the availability of prenatal/preimplantation genetic testing is before pregnancy.
  • It is appropriate to offer genetic counseling (including discussion of potential risks to offspring and reproductive options) to young adults who are affected or at risk.

DNA banking is the storage of DNA (typically extracted from white blood cells) for possible future use. Because it is likely that testing methodology and our understanding of genes, allelic variants, and diseases will improve in the future, consideration should be given to banking DNA of affected individuals.

Prenatal Testing and Preimplantation Genetic Testing

Once the FTL pathogenic variant has been identified in an affected family member, prenatal testing for a pregnancy at increased risk and preimplantation genetic testing are possible.

Differences in perspective may exist among medical professionals and within families regarding the use of prenatal testing. While most centers would consider use of prenatal testing to be a personal decision, discussion of these issues may be helpful.


GeneReviews staff has selected the following disease-specific and/or umbrella support organizations and/or registries for the benefit of individuals with this disorder and their families. GeneReviews is not responsible for the information provided by other organizations. For information on selection criteria, click here.

  • NBIA Disorders Association
    2082 Monaco Court
    El Cajon CA 92019-4235
    Phone: 619-588-2315
    Fax: 619-588-4093
  • NBIAcure
    Center of Excellence for NBIA Clinical Care and Research
    International Registry for NBIA and Related Disorders
    Oregon Health & Science University
    Phone: 503-494-4344
    Fax: 503-494-6886
  • Treat Iron-Related Childhood Onset Neurodegeneration (TIRCON)
    Phone: 49-89-4400-57421
    Fax: 49-89-4400-57402

Molecular Genetics

Information in the Molecular Genetics and OMIM tables may differ from that elsewhere in the GeneReview: tables may contain more recent information. —ED.

Table A.

Neuroferritinopathy: Genes and Databases

GeneChromosome LocusProteinLocus-Specific DatabasesHGMDClinVar
FTL 19q13​.33 Ferritin light chain FTL database FTL FTL

Data are compiled from the following standard references: gene from HGNC; chromosome locus from OMIM; protein from UniProt. For a description of databases (Locus Specific, HGMD, ClinVar) to which links are provided, click here.

Table B.

OMIM Entries for Neuroferritinopathy (View All in OMIM)


Gene structure. FTL has four exons. For a detailed summary of gene and protein information, see Table A, Gene.

Pathogenic variants. Approximately ten pathogenic variants in FTL have been associated with neuroferritinopathy. The common c.460dupA pathogenic variant in exon 4 was observed in 10/12 families (~80%) [Curtis et al 2001, Chinnery et al 2007]. The majority of pathogenic variants lie in exon 4. A single pathogenic missense variant (c.474G>A) has been described (see Table 4) [Curtis et al 2001, Vidal et al 2004, Maciel et al 2005, Mancuso et al 2005, Devos et al 2009, Kubota et al 2009, Moutton et al 2014].

Table 4.

FTL Variants Discussed in This GeneReview

DNA Nucleotide Change
(Alias 1)
Predicted Protein ChangeReference Sequences
c.439_442dupGACCp.His148ArgfsTer34 NM_000146​.3

Variants listed in the table have been provided by the author. GeneReviews staff have not independently verified the classification of variants.

GeneReviews follows the standard naming conventions of the Human Genome Variation Society (varnomen​ See Quick Reference for an explanation of nomenclature.


Variant designation that does not conform to current naming conventions

Normal gene product. Ferritin has two main subunits, H and L, and is involved in the storage and detoxification of iron. A functional ferritin molecule can store up to 4,500 iron molecules. The proportion of H and L subunits varies among tissues.

Abnormal gene product. The c.460dupA variant is predicted to alter 22 C-terminal residues (the D-helix, the DE loop, and the E-helix) of the ferritin molecule, extending the protein by four amino acids. The extension is predicted to alter its iron storage capacity, possibly leading to an excessive release of toxic iron within neurons through a dominant-negative effect; mitochondrial respiratory chain function may also be involved, as abnormal mitochondrial respiratory function has been documented in numerous individuals with neuroferritinopathy.


Published Guidelines / Consensus Statements

  • Committee on Bioethics, Committee on Genetics, and American College of Medical Genetics and Genomics Social, Ethical, Legal Issues Committee. Ethical and policy issues in genetic testing and screening of children. Available online. 2013. Accessed 12-22-20.
  • National Society of Genetic Counselors. Position statement on genetic testing of minors for adult-onset conditions. Available online. 2018. Accessed 12-22-20.

Literature Cited

  • Batla A, Adams ME, Erro R, Ganos C, Balint B, Mencacci NE, Bhatia KP. Cortical pencil lining in neuroferritinopathy: a diagnostic clue. Neurology. 2015;84:1816–8. [PMC free article: PMC4424124] [PubMed: 25832658]
  • Burn J, Chinnery PF. Neuroferritinopathy. Semin Pediatr Neurol. 2006;13:176–81. [PubMed: 17101456]
  • Chinnery PF, Crompton DE, Birchall D, Jackson MJ, Coulthard A, Lombes A, Quinn N, Wills A, Fletcher N, Mottershead JP, Cooper P, Kellett M, Bates D, Burn J. Clinical features and natural history of neuroferritinopathy caused by the FTL1 460InsA mutation. Brain. 2007;130:110–9. [PubMed: 17142829]
  • Chinnery PF, Curtis AR, Fey C, Coulthard A, Crompton D, Curtis A, Lombes A, Burn J. Neuroferritinopathy in a French family with late onset dominant dystonia. J Med Genet. 2003;40:e69. [PMC free article: PMC1735466] [PubMed: 12746423]
  • Crompton DE, Chinnery PF, Bates D, Walls TJ, Jackson MJ, Curtis AJ, Burn J. Spectrum of movement disorders in neuroferritinopathy. Mov Disord. 2005;20:95–9. [PubMed: 15390132]
  • Curtis AR, Fey C, Morris CM, Bindoff LA, Ince PG, Chinnery PF, Coulthard A, Jackson MJ, Jackson AP, McHale DP, Hay D, Barker WA, Markham AF, Bates D, Curtis A, Burn J. Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. Nat Genet. 2001;28:350–4. [PubMed: 11438811]
  • Devos D, Tchofo PJ, Vuillaume I, Destée A, Batey S, Burn J, Chinnery PF. Clinical features and natural history of neuroferritinopathy caused by the 458dupA FTL mutation. Brain. 2009;132:e109. [PMC free article: PMC2685918] [PubMed: 18854324]
  • Hautot D, Pankhurst QA, Morris CM, Curtis A, Burn J, Dobson J. Preliminary observation of elevated levels of nanocrystalline iron oxide in the basal ganglia of neuroferritinopathy patients. Biochim Biophys Acta. 2007;1772:21–5. [PMC free article: PMC1993816] [PubMed: 17097860]
  • Keogh MJ, Khan A, Gorman G, McNeill A, Horvath R, Burn J, Chinnery PF. An unusual gait following the discovery of a new disease. Pract Neurol. 2011;11:81–4. [PubMed: 21385964]
  • Kubota A, Hida A, Ichikawa Y, Momose Y, Goto J, Igeta Y, Hashida H, Yoshida K, Ikeda S, Kanazawa I, Tsuji S. A novel ferritin light chain gene mutation in a Japanese family with neuroferritinopathy: description of clinical features and implications for genotype-phenotype correlations. Mov Disord. 2009;24:441–5. [PubMed: 19117339]
  • Maciel P, Cruz VT, Constante M, Iniesta I, Costa MC, Gallati S, Sousa N, Sequeiros J, Coutinho P, Santos MM. Neuroferritinopathy: missense mutation in FTL causing early-onset bilateral pallidal involvement. Neurology. 2005;65:603–5. [PMC free article: PMC2886026] [PubMed: 16116125]
  • Mancuso M, Davidzon G, Kurlan RM, Tawil R, Bonilla E, Di Mauro S, Powers JM. Hereditary ferritinopathy: a novel mutation, its cellular pathology, and pathogenetic insights. J Neuropathol Exp Neurol. 2005;64:280–94. [PubMed: 15835264]
  • McNeill A, Birchall D, Hayflick SJ, Gregory A, Schenk JF, Zimmerman EA, Shang H, Miyajima H, Chinnery PF. T2* and FSE MRI distinguishes four subtypes of neurodegeneration with brain iron accumulation. Neurology. 2008;70:1614–9. [PMC free article: PMC2706154] [PubMed: 18443312]
  • McNeill A, Gorman G, Khan A, Horvath R, Blamire AM, Chinnery PF. Progressive brain iron accumulation in neuroferritinopathy measured by the thalamic T2* relaxation rate. AJNR Am J Neuroradiol. 2012;33:1810–3. [PMC free article: PMC4038493] [PubMed: 22499840]
  • Moutton S, Fergelot P, Trocello JM, Plante-Bordeneuve V, Houcinat N, Wenisch E, Larue V, Brugières P, Clot F, Lacombe D, Arveiler B, Goizet C. A novel FTL mutation responsible for neuroferritinopathy with asymmetric clinical features and brain anomalies. Parkinsonism Relat Disord. 2014;20:935–7. [PubMed: 24907184]
  • Nishida K, Garringer HJ, Futamura N, Funakawa I, Jinnai K, Vidal R, Takao M. A novel ferritin light chain mutation in neuroferritinopathy with an atypical presentation. J Neurol Sci. 2014;342:173–7. [PMC free article: PMC4048789] [PubMed: 24825732]
  • Ondo WG, Adam OR, Jankovic J, Chinnery PF. Dramatic response of facial stereotype/tic to tetrabenazine in the first reported cases of neuroferritinopathy in the United States. Mov Disord. 2010;25:2470–2. [PubMed: 20818611]
  • Vidal R, Ghetti B, Takao M, Brefel-Courbon C, Uro-Coste E, Glazier BS, Siani V, Benson MD, Calvas P, Miravalle L, Rascol O, Delisle MB. Intracellular ferritin accumulation in neural and extraneural tissue characterizes a neurodegenerative disease associated with a mutation in the ferritin light polypeptide gene. J Neuropathol Exp Neurol. 2004;63:363–80. [PubMed: 15099026]
  • Wills AJ, Sawle GV, Guilbert PR, Curtis AR. Palatal tremor and cognitive decline in neuroferritinopathy. J Neurol Neurosurg Psychiatry. 2002;73:91–2. [PMC free article: PMC1757327] [PubMed: 12082064]

Chapter Notes

Revision History

  • 18 January 2018 (ha) Comprehensive update posted live
  • 23 December 2010 (me) Comprehensive update posted live
  • 8 August 2007 (me) Comprehensive update posted live
  • 30 November 2006 (pfc) Revision: sequence analysis clinically available; addition of relevant material from author's new paper, Chinnery et al 2007
  • 25 April 2005 (me) Review posted live
  • 1 September 2004 (pfc) Original submission
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