Premium
Huntington's disease‐like 2 in Brazil—Report of 4 patients
Author(s) -
Rodrigues Guilherme G. Riccioppo,
Walker Ruth H.,
Brice Alexis,
Cazeneuve Cécile,
Russaouen Odile,
Teive Helio A.G.,
Munhoz Renato Puppi,
Becker Nilson,
Raskin Salmo,
Werneck Lineu Cesar,
Junior Wilson Marques,
Tumas Vitor
Publication year - 2008
Publication title -
movement disorders
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.352
H-Index - 198
eISSN - 1531-8257
pISSN - 0885-3185
DOI - 10.1002/mds.22223
Subject(s) - disease , pathological , huntington's disease , degenerative disease , exon , medicine , mutation , pathology , genetics , gene , biology
Huntington's disease‐like 2 (HDL2) is a neurodegenerative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifestations similar to Huntington's disease (HD). HDL2 is caused by a pathological expansion of CAG/CTG triplets in exon 2A of the JPH3 gene. We describe four cases of HDL2 from four unrelated families, and discuss their clinical findings. HDL2 should be considered in every patient with an HD‐like phenotype who tests negative for the HD mutation, even if African ancestry is not immediately apparent. © 2008 Movement Disorder Society