Huntington disease-like syndrome

Definition:

Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years, several other distinct genetic disorders have been identified that can present with a clinical picture indistinguishable from HD, termed HD-like (HDL) syndromes. So far, four genes associated with HDL syndromes have been identified, including the prion protein gene (HDL1), the junctophilin 3 gene (HDL2) and, the gene encoding the TATA box-binding protein (HDL4).

References:

[1]. Edward J Wild, et al. Huntington's disease phenocopies are clinically and genetically heterogeneous. Mov Disord. 2008 Apr 15;23(5):716-20. [Content Brief]

[2]. Giovanni Stevanin, et al. Huntington's disease-like phenotype due to trinucleotide repeat expansions in the TBP and JPH3 genes. Brain. 2003 Jul;126(Pt 7):1599-603. [Content Brief]

[3]. J L Laplanche, et al. Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene. Brain. 1999 Dec;122 ( Pt 12):2375-86. [Content Brief]

[4]. S E Holmes, et al. A repeat expansion in the gene encoding junctophilin-3 is associated with Huntington disease-like 2. Nat Genet. 2001 Dec;29(4):377-8. [Content Brief]

[5]. Susanne A Schneider, et al. The Huntington's disease-like syndromes: what to consider in patients with a negative Huntington's disease gene test. Nat Clin Pract Neurol. 2007 Sep;3(9):517-25. [Content Brief]

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