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The Huntington’s disease-like syndromes: what to consider in patients with a negative Huntington’s disease gene test

Posted by iskanbasal on October 1, 2007

“Huntington’s disease (HD), which is caused by a triplet-repeat expansion in the IT15huntingtin 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 that of HD. These disorders are termed Huntington’s disease-like (HDL) syndromes. So far, four such conditions have been recognized, namely disorders attributable to mutations in the prion protein gene (HDL1), the junctophilin 3 gene (HDL2), and the gene encoding the TATA box-binding protein (HDL4/SCA17), and a recessively inherited HD phenocopy in a single family (HDL3), the genetic basis of which is currently poorly understood. These disorders, however, account for only a small proportion of cases with the HD phenotype but a negative genetic test for HD, and the list of HDL genes and conditions is set to grow. In this article, we review the most important HD phenocopy disorders identified to date and discuss the clinical clues that guide further investigation. We will concentrate on the four so-called HDL syndromes mentioned above, as well as other genetic disorders such as dentatorubral–pallidoluysian atrophy, neuroferritinopathy, pantothenate-kinase-associated neurodegeneration and chorea–acanthocytosis”.

This is an interested article on Huntington disease published at the Journal: “Nature clinical Practice” :
Nature Clinical Practice Neurology (2007) 3, 517-525

I posted below about this disease, it was an article to elucidate the psychiatric manifeatations of the HD. this article is discussing HD-like syndromes. I remember only a case of Neuroacanthocytosis as a choreic syndrome, I saw in a young adult female during my neurology rotation. Chorea was the principal manifestation in that case.

Medscape is also offering CME credits to the readers of this case report:

Medscape Continuing Medical Education online

Medscape, LLC is pleased to provide online continuing medical education (CME) for this journal article, allowing clinicians the opportunity to earn CME credit. Medscape, LLC is accredited by the Accreditation Council for Continuing Medical Education (ACCME) to provide CME for physicians. Medscape, LLC designates this educational activity for a maximum of 1.0 AMA PRA Category 1 Credits. Physicians should only claim credit commensurate with the extent of their participation in the activity. All other clinicians completing this activity will be issued a certificate of participation. To receive credit, please go to and complete the post-test.

“escuse me my English errors”


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