Autosomal dominant cerebellar ataxia

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Classification according to ICD-10
G11.1 Dentatorubro-pallidolucous atrophy
G11.8 Other hereditary ataxias
ICD-10 online (WHO version 2019)

The autosomal dominant cerebellar ataxia (ADCA) is a group of rare congenital disease with the main features slowly progressive spinocerebellar ataxia and autosomal dominant inheritance.

Synonyms are: ADCA, cerebellar ataxia, spinocerebellar ataxia

Without accompanying diseases, all forms have in common an atrophy of the cerebellum , mostly with gait ataxia, unsteady standing, dysarthria and / or visual disturbances due to impaired eye movements .

The changes can only affect the cerebellum (ADCA type III), but also the retina (ADCA type II), the optic nerve , ponto-medullary systems, basal ganglia , cerebral cortex, spinal cord tracts or peripheral nerves (ADCA type I).

distribution

The frequency is given as 1–9 / 100,000, inheritance is autosomal dominant . The onset of illness is usually between the 3rd and 5th decade of life.

root cause

An underlying genetic defect can be detected in 50–80%. The genetic classification and designation of the affected genes is known as Spinocerebellar Ataxias (SCA).

classification

ADCA can be divided into 3 main types with subgroups.

ADCA type I.

Synonym: Cerebellar plus syndrome , with further changes beyond the cerebellum and retina

This type I also includes:

  • SCA15 / 16
  • SCA18
  • SCA19 / 22
  • SCA21
  • SCA23
  • SCA25
  • SCA29
  • SCA32
  • SCA34
  • SCA35
  • SCA36
  • SCA37
  • SCA40
  • SCA43

ADCA type II

ADCA Type II is a group of diseases limited to the cerebellum and retina

  • SCA7 , synonym: ataxia with pigment retinopathy; Ataxia, autosomal dominant spinocerebellar, type 7

ADCA type III

Synonym: Purely cerebellar syndrome - mild pyramidal disorders , confined to the cerebellum

  • SCA15
  • SCA20

ADCA type IV

literature

  • S. Fujioka, C. Sundal, ZK Wszolek: Autosomal dominant cerebellar ataxia type III: a review of the phenotypic and genotypic characteristics. In: Orphanet Journal of Rare Diseases. Volume 8, January 2013, p. 14, doi: 10.1186 / 1750-1172-8-14 , PMID 23331413 , PMC 3558377 (free full text) (review).
  • S. Rivaud-Pechoux, A. Dürr, B. Gaymard, G. Cancel, CJ Ploner, Y. Agid, A. Brice, C. Pierrot-Deseilligny: Eye movement abnormalities correlate with genotype in autosomal dominant cerebellar ataxia type I. In : Annals of neurology. Volume 43, Number 3, March 1998, pp. 297-302, doi: 10.1002 / ana.410430306 , PMID 9506545 (review).
  • AE Harding: Clinical features and classification of inherited ataxias. In: Advances in neurology. Volume 61, 1993, pp. 1-14, PMID 8421960 (review).

Individual evidence

  1. ↑ a b Cerebellar ataxia, autosomal dominant. In: Orphanet (Rare Disease Database).
  2. ^ NR Whaley, S. Fujioka, ZK Wszolek: Autosomal dominant cerebellar ataxia type I: a review of the phenotypic and genotypic characteristics. In: Orphanet Journal of Rare Diseases. Volume 6, May 2011, p. 33, doi: 10.1186 / 1750-1172-6-33 , PMID 21619691 , PMC 3123548 (free full text) (review).
  3. ↑ Ataxia, cerebellar, autosomal dominant, type 1. In: Orphanet (database for rare diseases).
  4. ↑ Ataxia, spinocerebellar, type 1. In: Orphanet (database for rare diseases).
  5. ↑ Ataxia, spinocerebellar, type 2. In: Orphanet (database for rare diseases).
  6. ↑ Ataxia, spinocerebellar, type 17. In: Orphanet (database for rare diseases).
  7. ↑ atrophy, dentatorubral-pallidolysiale. In: Orphanet (Rare Disease Database).
  8. ↑ Ataxia, spinocerebellar, type 8. In: Orphanet (database for rare diseases).
  9. ^ Ataxia, spinocerebellar, type 10. In: Orphanet (database for rare diseases).
  10. ↑ Ataxia, spinocerebellar, type 12. In: Orphanet (database for rare diseases).
  11. ↑ Ataxia, spinocerebellar, type 14. In: Orphanet (database for rare diseases).
  12. ↑ Ataxia, spinocerebellar, type 15/16. In: Orphanet (Rare Disease Database).
  13. ^ Ataxia, spinocerebellar, type 16. In: Orphanet (database for rare diseases).
  14. ↑ Ataxia, spinocerebellar, type 27. In: Orphanet (database for rare diseases).
  15. ↑ Ataxia, spinocerebellar, type 28. In: Orphanet (database for rare diseases).
  16. ↑ Ataxia, spinocerebellar, type 15/16. In: Orphanet (Rare Disease Database).
  17. ↑ Ataxia, spinocerebellar, type 18. In: Orphanet (database for rare diseases).
  18. ↑ Ataxia, spinocerebellar, type 19/22. In: Orphanet (Rare Disease Database).
  19. ^ Ataxia, spinocerebellar, type 21. In: Orphanet (database for rare diseases).
  20. ↑ Ataxia, spinocerebellar, type 23. In: Orphanet (database for rare diseases).
  21. ↑ Ataxia, spinocerebellar, type 25. In: Orphanet (database for rare diseases).
  22. ↑ Ataxia, spinocerebellar, type 29. In: Orphanet (database for rare diseases).
  23. ↑ Ataxia, spinocerebellar, type 32. In: Orphanet (database for rare diseases).
  24. ↑ Ataxia, spinocerebellar, type 34. In: Orphanet (database for rare diseases).
  25. ↑ Ataxia, spinocerebellar, type 35. In: Orphanet (database for rare diseases).
  26. ↑ Spinocerebellar, type 36 autosomal dominant cerebellar ataxia. In: Orphanet (Rare Disease Database).
  27. ↑ Ataxia, spinocerebellar, type 37. In: Orphanet (database for rare diseases).
  28. ↑ Ataxia, spinocerebellar, type 40. In: Orphanet (database for rare diseases).
  29. ↑ Spinocerebellar Ataxia Type 43. In: Orphanet (database for rare diseases).
  30. ↑ Ataxia, cerebellar, autosomal dominant, type 2. In: Orphanet (database for rare diseases).
  31. ↑ Ataxia, spinocerebellar, type 7. In: Orphanet (database for rare diseases).
  32. ↑ Ataxia, cerebellar, autosomal dominant, type 3. In: Orphanet (database for rare diseases).
  33. ↑ Ataxia, spinocerebellar, type 15/16. In: Orphanet (Rare Disease Database).
  34. ↑ Ataxia, spinocerebellar, type 20. In: Orphanet (database for rare diseases).
  35. ↑ Ataxia, cerebellar, autosomal dominant, type 4. In: Orphanet (database for rare diseases).
  36. ↑ Autosomal dominant cerebellar ataxia with hearing loss and narcolepsy. In: Orphanet (Rare Disease Database).
  37. ↑ A. Catania, L. Peverelli, S. Tabano, D. Ghezzi, C. Lamperti: DNMT1-complex disorder caused by a novel mutation associated with an overlapping phenotype of autosomal-dominant cerebellar ataxia, deafness, and narcolepsy (ADCA-DN ) and hereditary sensory neuropathy with dementia and hearing loss (HSN1E). In: Neurological sciences: official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. Volume 40, Number 9, September 2019, pp. 1963-1966, doi: 10.1007 / s10072-019-03859-7 , PMID 30911858 .

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