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Huntington disease (HD) phenotypes without a HTT mutation are known as HD-like (HDL) syndromes and are caused by mutations in other loci. HDL2, almost indistinguishable from HD, is due to expansions in the Junctophilin 3 locus (JPH3) with a worldwide Sub-Saharan ethnic origin. Sixteen independent patients with involuntary movements, psychiatric disturbances and ataxia not having a HTT mutation were searched for loci PRNP (prion protein, HDL1), JPH3 (HDL2), ATN1 (dentatorubral-pallidoluysian atrophy), ATX2 (spinocerebellar ataxia 2) ATXN3 (spinocerebellar ataxia 3), and TBP (spinocerebellar ataxia 17=HDL4). Markers Duffy, Kell, Diego, D9S1120, plus six JPH3 intragenic single-nucleotide polymorphisms were tested to ascertain ethnic origin. Four unrelated choreic patients had an expanded allele at JPH3. Three of them carried the African marker Duffy null. All four families carried with the mutation the same haplotype most frequent in African populations; Amerindian alleles D9D1120*9 and Diego A; or Kell allele K were absent. HDL2 in Venezuela had a low, but higher relative frequency (2.6%) than that in other Caucasoid populations. It should be searched first in choreic patients not having HTT mutations. The most likely remote ethnic origin for all detected families was African.

Huntington disease-like 2 (HDL2) in Venezuela: frequency and ethnic origin