Huntington's disease-like syndrome
The Huntington's disease-like syndromes (often abbreviated as HD-like 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.[1]
HDL1
| Huntington's disease-like syndrome type 1 | |
|---|---|
| Synonyms | Huntington disease-like 1, HDL-1, HDL1, HD-like 1 |
| Classification and external resources | |
| OMIM | 603218 |
| DiseasesDB | 33521 |
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.[1]
HDL2
| Huntington's disease-like syndrome type 2 | |
|---|---|
| Synonyms | Huntington disease-like 2, HDL-2, HDL2, HD-like 2 |
| Classification and external resources | |
| OMIM | 606438 |
| DiseasesDB | 33520 |
HDL2 is the commonest HD-like syndrome and is caused by GTC/CAG triplet expansions in the JPH3 gene encoding junctophilin-3. GTC/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.[1]
HDL3
| Huntington's disease-like syndrome type 3 | |
|---|---|
| Synonyms | Huntington disease-like 3, HDL-3, HDL3, HD-like 3 |
| Classification and external resources | |
| OMIM | 604802 |
| DiseasesDB | 34626 |
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.[1]
Other causes of HD-like syndromes
Other neurogenetic disorders can cause an HD-like or HD phenocopy syndrome but are not solely defined as HDL syndromes. The commonest is spinocerebellar ataxia type 17 (SCA-17), occasionally called HDL-4. Others include mutations in C9orf72,[2][3] spinocerebellar ataxias type 1 and 3, neuroacanthocytosis, dentatorubral-pallidoluysian atrophy (DRPLA), brain iron accumulation disorders, Wilson's disease, benign hereditary chorea, Friedreich's ataxia, mitochondrial disease.[1]
A Huntington's disease-like presentation may also be caused by acquired causes.[1]
See also
References
- 1 2 3 4 5 6 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.
- ↑ 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. - ↑ 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.