Huntington's disease-like syndrome










Huntington's disease-like syndrome
Specialty Neurology

Huntington's disease-like syndromes (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]




Contents






  • 1 Types


    • 1.1 HDL1


    • 1.2 HDL2


    • 1.3 HDL3


    • 1.4 Other




  • 2 See also


  • 3 References


  • 4 External links





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 commonest HD-like syndrome and is caused by 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


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, mitochondrial disease.[1]


A Huntington's disease-like presentation may also be caused by acquired causes.[1]



See also



  • Huntington's disease

  • Chorea



References





  1. ^ abcdef 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..mw-parser-output cite.citation{font-style:inherit}.mw-parser-output .citation q{quotes:"""""""'""'"}.mw-parser-output .citation .cs1-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/6/65/Lock-green.svg/9px-Lock-green.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-limited a,.mw-parser-output .citation .cs1-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/d/d6/Lock-gray-alt-2.svg/9px-Lock-gray-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .citation .cs1-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/a/aa/Lock-red-alt-2.svg/9px-Lock-red-alt-2.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration{color:#555}.mw-parser-output .cs1-subscription span,.mw-parser-output .cs1-registration span{border-bottom:1px dotted;cursor:help}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/thumb/4/4c/Wikisource-logo.svg/12px-Wikisource-logo.svg.png")no-repeat;background-position:right .1em center}.mw-parser-output code.cs1-code{color:inherit;background:inherit;border:inherit;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;font-size:100%}.mw-parser-output .cs1-visible-error{font-size:100%}.mw-parser-output .cs1-maint{display:none;color:#33aa33;margin-left:0.3em}.mw-parser-output .cs1-subscription,.mw-parser-output .cs1-registration,.mw-parser-output .cs1-format{font-size:95%}.mw-parser-output .cs1-kern-left,.mw-parser-output .cs1-kern-wl-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right,.mw-parser-output .cs1-kern-wl-right{padding-right:0.2em}


  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





Classification
D



  • OMIM: 603218, 604802 606438, 603218, 604802


  • DiseasesDB: 33521, 34626.htm 33520, 33521, 34626



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