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Trinucleotide repeat disorders.
Den Dunnen WFA. Den Dunnen WFA. Handb Clin Neurol. 2017;145:383-391. doi: 10.1016/B978-0-12-802395-2.00027-4. Handb Clin Neurol. 2017. PMID: 28987184 Review.
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease-like 2 (HDL2) and SCA8, can be neuropathologically identified using 1C2 polyglutamine antibodies. In fragile X-associated tremor …
Apart from spinocerebellar ataxia type 6 and 12 (SCA6 and SCA12), these CAG-repeat diseases, as well as Huntington disease- …
The Neuropsychiatry of Huntington Disease-Like 2: A Comparison with Huntington's Disease.
Ferreira-Correia A, Krause A, Anderson DG. Ferreira-Correia A, et al. J Huntingtons Dis. 2020;9(4):325-334. doi: 10.3233/JHD-200422. J Huntingtons Dis. 2020. PMID: 33044188

BACKGROUND: Huntington Disease-Like 2 (HDL2) is a rare autosomal dominant disorder caused by an abnormal CAG/CTG triplet repeat expansion on chromosome 16q24. ...Duration of disease and motor performance correlated (p < 0.001) with the Functional Ca

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BACKGROUND: Huntington Disease-Like 2 (HDL2) is a rare autosomal dominant disorder caused by an abnormal CAG/CTG …
Neurologic phenotypes associated with acanthocytosis.
Walker RH, Jung HH, Dobson-Stone C, Rampoldi L, Sano A, Tison F, Danek A. Walker RH, et al. Neurology. 2007 Jan 9;68(2):92-8. doi: 10.1212/01.wnl.0000250356.78092.cc. Neurology. 2007. PMID: 17210889 Review.
The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but there are other movement disorders in which erythrocyte acanthocytosis may also be seen, such as Huntington disease-like …
The term "neuroacanthocytosis" is normally used to refer to autosomal recessive chorea-acanthocytosis and X-linked McLeod syndrome, but ther …
A comparison between the neurocognitive profile of Huntington Disease-Like 2 and Huntington Disease: Exploring the presence of double dissociations.
Ferreira-Correia A, Anderson DG, Cockcroft K, Krause A. Ferreira-Correia A, et al. Appl Neuropsychol Adult. 2022 Mar-Apr;29(2):223-233. doi: 10.1080/23279095.2020.1734810. Epub 2020 Mar 9. Appl Neuropsychol Adult. 2022. PMID: 32149528
Huntington Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 gene. ...Potential double dissociations were explored by using Crawford, Garthwaite, and Wood's Inferential Methods for Comparing the Scor …
Huntington Disease Like-2 (HDL2) is a rare autosomal dominant genetic disease caused by a mutation in the JPH3 g …
A Drosophila model of Huntington disease-like 2 exhibits nuclear toxicity and distinct pathogenic mechanisms from Huntington disease.
Krench M, Cho RW, Littleton JT. Krench M, et al. Hum Mol Genet. 2016 Aug 1;25(15):3164-3177. doi: 10.1093/hmg/ddw166. Epub 2016 Jun 10. Hum Mol Genet. 2016. PMID: 27288455 Free PMC article.
Huntington disease-like 2 (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characterized by movement disorders, psychiatric disturbances and cognitive decline. ...HDL2-Q138 forms large nuclear aggregates, with only smaller …
Huntington disease-like 2 (HDL2) and Huntington disease (HD) are adult-onset neurodegenerative diseases characte …
Novel locus for benign hereditary chorea with adult onset maps to chromosome 8q21.3 q23.3.
Shimohata T, Hara K, Sanpei K, Nunomura J, Maeda T, Kawachi I, Kanazawa M, Kasuga K, Miyashita A, Kuwano R, Hirota K, Tsuji S, Onodera O, Nishizawa M, Honma Y. Shimohata T, et al. Brain. 2007 Sep;130(Pt 9):2302-9. doi: 10.1093/brain/awm036. Epub 2007 Apr 2. Brain. 2007. PMID: 17405764
Autosomal dominant choreas are genetically heterogeneous disorders including Huntington disease (HD), Huntington disease like 1 (HDL1), Huntington disease like 2 (HDL2), dentatorubro-pallidoluysian atrophy (DRPLA), spinocerebellar ataxia type 17 (SCA17 …
Autosomal dominant choreas are genetically heterogeneous disorders including Huntington disease (HD), Huntington disease like 1 (HDL1), H …