Kufor-Rakeb Syndrome

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Classification according to ICD-10
G31.89 Degenerative disease of the nervous system, unspecified
ICD-10 online (WHO version 2019)

The Kufor-Rakeb syndrome (CRS) is a very rare congenital disease with the main features of generalized brain atrophy and iron deposits in the brain . The syndrome belongs to the neurodegeneration disease group with iron deposition in the brain and can also be viewed as a special form of adolescent Parkinson's disease .

Synonyms are: neurodegeneration with iron storage in the brain; English Parkinson’s disease 9; PARK9; autosomal recessive, juvenile onset Parkinson's disease 9; pallidopyramidal degeneration with supranuclear upgaze paresis and dementia

The first description comes from the year by the Jordanian doctor AS Najim Al-Din and colleagues.

The name refers to the place Kufor Rabeb in the Irbid Governorate in Jordan.

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal - recessive .

root cause

Of the disease are mutations in ATP13A2 - gene on chromosome 1 locus p36.13 based, which for the cation-transporting ATPase 13A2, a lysosomal encoding type ATPase. 5

Mutations in this gene also occur in hereditary spastic paraplegia and neuronal ceroid lipofuscinosis .

Clinical manifestations

Clinical criteria are:

diagnosis

The clinical findings can be confirmed by imaging (but not always) by detecting iron deposits in the basal ganglia , globus pallidus , putamen and the caudate nucleus using magnetic resonance imaging .

therapy

A causal treatment option is not yet known.

literature

  • R. Inzelberg, A. Estrada-Cuzcano, Y. Laitman, E. De Vriendt, E. Friedman, A. Jordanova: Kufor-Rakeb Syndrome / PARK9: One Novel and One Possible Recurring Ashkenazi ATP13A2 Mutation. In: Journal of Parkinson's disease. Volume 8, Number 3, 2018, pp. 399-403, doi: 10.3233 / JPD-181360 , PMID 29966207 .
  • M. Rohani, AE Lang, F. Sina, E. Elahi, A. Fasano, J. Hardy, J. Bras, A. Alavi: Action Myoclonus and Seizure in Kufor-Rakeb Syndrome. In: Movement disorders clinical practice. Volume 5, number 2, 2018 Mar-Apr, pp. 195–199, doi: 10.1002 / mdc3.12570 , PMID 30868101 , PMC 6407049 (free full text).
  • DR Williams, A. Hadeed, AS al-Din, AL Wreikat, AJ Lees: Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. In: Movement disorders: official journal of the Movement Disorder Society. Volume 20, number 10, October 2005, pp. 1264-1271, doi: 10.1002 / mds.20511 , PMID 15986421
  • DJ Hampshire, E. Roberts, Y. Crow, J. Bond, A. Mubaidin, AL Wriekat, A. Al-Din, CG Woods: Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36 . In: Journal of medical genetics. Volume 38, number 10, October 2001, pp. 680-682, doi: 10.1136 / jmg.38.10.680 , PMID 11584046 , PMC 1734748 (free full text).

Individual evidence

  1. ↑ a b c Kufor-Rakeb syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b A. Gregory, S .: Neurodegeneration with Brain Iron Accumulation Disorders Overview. In: GeneReviews®. 2013, PMID 23447832 (English, nih.gov).
  3. ↑ AS Najim al-Din, A. Wriekat, A. Mubaidin, M. Dasouki, M. Hiari: Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. In: Acta neurologica Scandinavica. Volume 89, Number 5, May 1994, pp. 347-352, doi: 10.1111 / j.1600-0404.1994.tb02645.x , PMID 8085432 .
  4. ↑ Kufor-Rakeb syndrome.  In: Online Mendelian Inheritance in Man . (English)
  5. ↑ a b axis network

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