Medicine:Huntington's disease-like syndrome
| Huntington's disease-like syndrome | |
|---|---|
| Other names | HDL syndrome |
| Specialty | Neurology |
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.[1]
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.[1]
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.[1]
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.[1]
Other
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 and mitochondrial diseases.[1]
A Huntington's disease-like presentation may also be caused by acquired causes.[1]
References
- ↑ 1.0 1.1 1.2 1.3 1.4 1.5 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 et al. (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. 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. PMID 24493408.
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