Misplaced Pages

Huntington's disease-like syndrome

Article snapshot taken from Wikipedia with creative commons attribution-sharealike license. Give it a read and then ask your questions in the chat. We can research this topic together.
(Redirected from Huntington's disease–like 2) Medical condition
Huntington's disease-like syndrome
Other namesHDL syndrome
SpecialtyNeurology

Huntington's disease-like syndromes (HD-like syndromes, or HDL syndromes) are a family of inherited neurodegenerative diseases that closely resemble Huntington's disease (HD) in that they typically produce a combination of chorea, cognitive decline or dementia and behavioural or psychiatric problems.

Types

HDL1

HDL1 is an unusual, autosomal dominant familial prion disease. Only described in one family, it is caused by an eight-octapeptide repeat insertion in the PRNP gene. More broadly, inherited prion diseases in general can mimic HD.

HDL2

HDL2 is the most common HD-like syndrome and is caused by CTG/CAG triplet expansions in the JPH3 gene encoding junctophilin-3. It is almost exclusively restricted to populations of African descent and is actually more common than Huntington's disease in Black South Africans.

HDL3

HDL3 is a rare, autosomal recessive disorder linked to chromosome 4p15.3. It has only been reported in two families, and the causative gene is unidentified.

Other

Other neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. The most common is spinocerebellar ataxia type 17 (SCA-17), occasionally called HDL-4. Others include mutations in C9orf72, spinocerebellar ataxias type 1 and 3, neuroacanthocytosis, dentatorubral-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia and mitochondrial diseases.

A Huntington's disease-like presentation may also be caused by acquired causes.

References

  1. ^ Wild, EJ; Tabrizi, SJ (December 2007). "Huntington's disease phenocopy syndromes". Current Opinion in Neurology. 20 (6): 681–7. doi:10.1097/wco.0b013e3282f12074. PMID 17992089. S2CID 37287959.
  2. Hensman Moss, DJ; Poulter, M; Beck, J; Hehir, J; Polke, JM; Campbell, T; Adamson, G; Mudanohwo, E; McColgan, P; Haworth, A; Wild, EJ; Sweeney, MG; Houlden, H; Mead, S; Tabrizi, SJ (28 January 2014). "C9orf72 expansions are the most common genetic cause of Huntington disease phenocopies". Neurology. 82 (4): 292–9. doi:10.1212/WNL.0000000000000061. PMC 3929197. PMID 24363131.
  3. Cooper-Knock, J; Shaw, PJ; Kirby, J (March 2014). "The widening spectrum of C9ORF72-related disease; genotype/phenotype correlations and potential modifiers of clinical phenotype". Acta Neuropathologica. 127 (3): 333–45. doi:10.1007/s00401-014-1251-9. PMC 3925297. PMID 24493408.

External links

ClassificationD
Categories: