Huntington's disease-like syndrome

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Classification according to ICD-10
G10 Chorea huntington
ICD-10 online (WHO version 2019)

The Huntington's disease-like syndrome is a group of very rare congenital brain disease that are clinically of Huntington's disease , but do not comply with the mutation exhibit.

Synonyms : Huntington's disease-like disease; English Huntington’s disease-like; HDL

Classification

Under this term are listed in Orphanet :

  • HDL1 , synonyms: Huntington's disease-like disease 1; Early-onset prion disease with prominent psychiatric features , autosomal dominant , mutations in the PRNP - gene on chromosome 20 locus p13
  • HDL2 , synonym: Huntington's disease-like disease 2 , belongs to the neuroacanthocytosis syndromes, autosomal dominant, mutations in the JPH3 gene on chromosome 16 locus q24.2 Mainly in patients of African origin
  • HDL3 , synonym: Huntington's disease-like disease 3 , autosomal - recessive mutations on chromosome 4 locus p15.3
  • HDL4 , synonym: Huntington's disease-like disease 4; Ataxia, spinocerebellar, type 17; SCA17 , autosomal dominant, mutations in the TBP gene on chromosome 6 locus q27
  • Huntington's disease -like syndrome due to C9ORF72 expansions , synonym: C9ORF72-dependent phenocopy of Huntington's disease , autosomal dominant

distribution

The frequency is unknown; all of these syndromes are much rarer than Huntington's disease.

The most common form seems to be HDL4, followed by HDL2, almost exclusively in black Africans and their descendants. HDL3 was found in two families from Saudi Arabia and HDL1 in one family.

Clinical manifestations

The clinical picture corresponds to that of Huntington's disease.

Clinical features usually appear in early to mid-adulthood, only HDL3 begins as early as 3–4 years of age.

Differential diagnostics

In addition to the diseases listed here, the following must be distinguished:

literature

  • SA Schneider, RH Walker, KP Bhatia: The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. In: Nature clinical practice. Neurology. Volume 3, Number 9, September 2007, pp. 517-525, doi: 10.1038 / ncpneuro0606 , PMID 17805246 (review).

Individual evidence

  1. ↑ a b Huntington's disease-like syndrome. In: Orphanet (Rare Disease Database).
  2. ↑ a b H.P. Nguyen: Huntington's Disease and Huntington's-Like Diseases. In: medical genetics. 25, 2013, p. 221, doi: 10.1007 / s11825-013-0392-x .
  3. ^ Huntington disease-like 1.  In: Online Mendelian Inheritance in Man . (English)
  4. ^ Huntington's disease-like disease 1. In: Orphanet (Rare Diseases Database).
  5. ↑ Huntington disease-like 2.  In: Online Mendelian Inheritance in Man . (English)
  6. ^ Huntington's disease-like disease 2. In: Orphanet (Rare Diseases Database).
  7. ^ A b c d S. A. Schneider, KP Bhatia: Huntington's disease look-alikes. In: Handbook of clinical neurology. Volume 100, 2011, pp. 101-112, doi: 10.1016 / B978-0-444-52014-2.00005-7 , PMID 21496572 (review).
  8. ^ Huntington disease-like 3rd  In: Online Mendelian Inheritance in Man . (English)
  9. ↑ Huntington's Disease-Like Disease 3. In: Orphanet (Rare Diseases Database).
  10. ↑ Spinocerebellar ataxia 17.  In: Online Mendelian Inheritance in Man . (English)
  11. ↑ Ataxia, spinocerebellar, type 17. In: Orphanet (database for rare diseases).
  12. ↑ Huntington's disease-like syndrome due to C9ORF72 expansions. In: Orphanet (Rare Disease Database).
  13. ↑ a b Genetics Home Reference
  14. ↑ JL Pedroso, ME de Freitas, MV Albuquerque, ML Saraiva-Pereira, LB Jardim, OG Barsottini: Should spinocerebellar ataxias be included in the differential diagnosis for Huntington's diseases-like syndromes? In: Journal of the neurological sciences. Volume 347, number 1–2, December 2014, pp. 356–358, doi: 10.1016 / j.jns.2014.09.050 , PMID 25456461 .
  15. ↑ Neuroferritinopathy. In: Orphanet (Rare Disease Database).

Web links

  • C. Juice. et al .: S2k guidelines for chorea / Huntington's disease. 2017. In: German Society for Neurology, Ed. Guidelines for Diagnostics and Therapy in Neurology. Online: [1]
  • Rare Diseases