Artículos de revistas
Huntington`s Disease-Like 2 in Brazil-Report of 4 Patients
Fecha
2008Registro en:
MOVEMENT DISORDERS, v.23, n.15, p.2244-2247, 2008
0885-3185
10.1002/mds.22223
Autor
RODRIGUES, Guilherme G. Riccioppo
WALKER, Ruth H.
BRICE, Alexis
CAZENEUVE, Cecile
RUSSAOUEN, Odile
TEIVE, Helio A. G.
MUNHOZ, Renato Puppi
BECKER, Nilson
RASKIN, Salino
WERNECK, Lineu Cesar
MARQUES, Wilson Junior
TUMAS, Vitor
Institución
Resumen
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. (C) 2008 Movement Disorder Society