Dentatorubro-pallidolucous atrophy

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Classification according to ICD-10
G11.8 Other hereditary ataxias
ICD-10 online (WHO version 2019)

The Dentatorubro-Pallidoluysische atrophy (DRPLA) from the dentate nucleus , red nucleus , pallidus globe and Corpus Luysi (Subthalamus) is a very rare congenital form of autosomal dominant cerebellar ataxia (ADCA) with the main features of involuntary movements, ataxia , epilepsy , intellectual disability and deterioration in cognitive abilities .

Synonyms are: Naito Oyanagi disease; NOD; Myoclonic Epilepsy With Choreoathetosis; Haw River Syndrome; HRS; Ataxia, Chorea, Seizures, And Dementia

The names refer to the authors of the first description from 1982 by Haruhiko Naito and Shinsaku Oyanagi or to the geographical region Haw-River in North Carolina , in which James R. Burke and colleagues observed this clinical picture.

distribution

The frequency is given as 1–9 in 1,000,000, in Japan 1 in 208,000; inheritance is autosomal dominant .

root cause

The disease are mutations in ATN1 - gene on chromosome 12 locus p13.31 basis.

Clinical manifestations

Depending on the age at the first onset of the disease, a distinction can be made:

  • Early form Early onset, younger than 20 years, myoclonus epilepsy and intellectual deficit
  • Late form adult onset, older than 40 years, cerebellar ataxia, choreoathetosis and dementia

diagnosis

In magnetic resonance imaging, the disease is characterized by a combination of degenerative changes in the eponymous brain areas.

Differential diagnosis

Prospect of healing

The prognosis is considered unfavorable because of the rapid deterioration. Severe pneumonia from seizures and aspiration are common causes of death.

literature

  • S. Yamada, T. Yamazaki, S. Nakata, S. Nobusawa, H. Ikota, M. Ide, K. Mizushima, Y. Harigaya, J. Hirato, H. Yokoo: Dentatorubral-pallidoluysian atrophy (DRPLA) with a small ganglioglioma component containing neurofibrillary tangles and polyglutamine aggregation. In: Neuropathology: official journal of the Japanese Society of Neuropathology. [Electronic publication before printing] January 2017, doi: 10.1111 / neup.12365 , PMID 28144989 .
  • V. de Souza, GN Batistella, WB Pinto, AS Oliveira: Teaching NeuroImages: Leukodystrophy and progressive myoclonic epilepsy disclosing DRPLA. In: Neurology. Vol. 86, No. 6, February 2016, pp. E58 – e59, doi: 10.1212 / WNL.0000000000002356 , PMID 26857957 .

Individual evidence

  1. ↑ a b c d atrophy, dentato-rubro-pallido-luysische. In: Orphanet (Rare Disease Database).
  2. ↑ a b c Gene Reviews
  3. ↑ H. Naito, S. Oyanagi: Familial myoclonus epilepsy and choreoathetosis: hereditary dentatorubral-pallidoluysian atrophy. In: Neurology. Vol. 32, No. 8, August 1982, pp. 798-807, PMID 6808417 .
  4. ↑ JR Burke, MS Wingfield, KE Lewis, AD Roses, JE Lee, C. Hulette, MA Pericak-Vance, JM Vance: The Haw River syndrome: dentatorubropallidoluysian atrophy (DRPLA) in an African-American family. In: Nature genetics. Vol. 7, No. 4, August 1994, pp. 521-524, doi: 10.1038 / ng0894-521 , PMID 7951323 .
  5. ↑ Dentatorubro-pallidoluysian atrophy.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ I. Kanazawa: Dentatorubral-pallidoluysian atrophy or Naito-Oyanagi disease. In: Neurogenetics. Vol. 2, No. 1, December 1998, pp. 1-17, PMID 9933295 (review).
  7. ↑ N. Malek, W. Stewart, J. Greene: The progressive myoclonic epilepsies. In: Practical neurology. Vol. 15, No. 3, June 2015, pp. 164-171, doi: 10.1136 / practneurol-2014-000994 , PMID 25720773 (Review).
  8. ↑ Action myoclonus - kidney failure. In: Orphanet (Rare Disease Database).
  9. ^ Myoclonus epilepsy, progressive, type 5. In: Orphanet (database for rare diseases).
  10. ^ Myoclonus epilepsy, progressive, type 6. In: Orphanet (database for rare diseases).

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