Neuroferritinopathy

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Classification according to ICD-10
G23.0 Hallervorden-Spatz syndrome
ICD-10 online (WHO version 2019)

The Neuroferritinopathy is a very rare congenital disease progresses, the Huntington ähnelnder movement disorder and low cognitive disorder . It is a late-onset form of neurodegeneration with iron deposition in the brain (NBIA).

Synonyms are: basal ganglia diseases, adult; Ferritin-dependent neurodegeneration; Hereditary ferritinopathy; NBIA type 2

The first description comes from 2001 by the British human geneticist Andrew RJ Curtis and colleagues.

distribution

The frequency is given as less than 1 in 1,000,000, so far fewer than 90 people have been reported. The inheritance is autosomal dominant .

root cause

The disease are mutations in FTL - gene on chromosome 19 locus q13.33 based encoding a protein encoded "ferritin light chain".

This changes the functionality of the ferritin and the iron permeability .

There is abnormal iron deposition in the brain , particularly the basal ganglia , the substantia nigra, and the dentate nucleus .

Mutations in this gene are also the basis for hyperferritinemia-cataract syndrome .

Clinical manifestations

Clinical criteria are:

diagnosis

The diagnosis is based on the clinical changes, the decreased ferritin in the blood serum and is confirmed by imaging by the detection of iron deposition in the basal ganglia and adjacent brain areas by means of magnetic resonance imaging . Generalized brain atrophy can also be present.

Differential diagnostics

The following are to be distinguished:

therapy

No specific treatment is currently known.

course

The course is progressive with deterioration over the years and decades.

Individual evidence

  1. ↑ a b c d e f g Neuroferritinopathy. In: Orphanet (Rare Disease Database).
  2. ↑ Patrick F. Chinnery: Neuroferritinopathy . In: GeneReviews® . University of Washington, Seattle, Seattle WA 1993, PMID 20301320 ( nih.gov [accessed December 8, 2019]).
  3. ^ AR Curtis, C. Fey, CM Morris, LA Bindoff, PG Ince, PF Chinnery, A. Coulthard, MJ Jackson, AP Jackson, DP McHale, D. Hay, WA Barker, AF Markham, D. Bates, A. Curtis , J. Burn: Mutation in the gene encoding ferritin light polypeptide causes dominant adult-onset basal ganglia disease. In: Nature genetics. Volume 28, Number 4, August 2001, pp. 350-354, doi: 10.1038 / ng571 , PMID 11438811 .
  4. ↑ a b c d e N. Kumar, P. Rizek, M. Jog: Neuroferritinopathy: Pathophysiology, Presentation, Differential Diagnoses and Management. In: Tremor and other hyperkinetic movements. Volume 6, 2016, p. 355, doi: 10.7916 / D8KK9BHF , PMID 27022507 , PMC 4795517 (free full text) (review).
  5. ^ Neurodegeneration with brain iron accumulation 3.  In: Online Mendelian Inheritance in Man . (English)
  6. ↑ SH Yoon, NY Kim, YJ Kim, CH Lyoo: Novel Ferritin Light Chain Gene Mutation in a Korean Patient with Neuroferritinopathy. In: Journal of movement disorders. Volume 12, number 1, 01 2019, pp. 63–65, doi: 10.14802 / jmd.18062 , PMID 30732435 , PMC 6369382 (free full text).
  7. ↑ JR McNally, MR Mehlenbacher, S. Luscieti, GL Smith, AA Reutovich, P. Maura, P. Arosio, F. Bou-Abdallah: Mutant L-chain ferritins that cause neuroferritinopathy alter ferritin functionality and iron permeability. In: Metallomics: integrated biometal science. Volume 11, number 10, October 2019, pp. 1635–1647, doi: 10.1039 / c9mt00154a , PMID 31513212 , PMC 6800815 (free full text).
  8. ↑ a b Radiopaedia

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