title: Huntington's disease-like 2 in Brazil--report of 4 patients.
abstract: 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.
authors.affiliation: Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil.
authors.forename: Guilherme G Riccioppo
authors.initials: GG
authors.lastname: Rodrigues
authors.forename: Ruth H
authors.initials: RH
authors.lastname: Walker
authors.forename: Alexis
authors.initials: A
authors.lastname: Brice
authors.forename: Cécile
authors.initials: C
authors.lastname: Cazeneuve
authors.forename: Odile
authors.initials: O
authors.lastname: Russaouen
authors.forename: Helio A G
authors.initials: HA
authors.lastname: Teive
authors.forename: Renato Puppi
authors.initials: RP
authors.lastname: Munhoz
authors.forename: Nilson
authors.initials: N
authors.lastname: Becker
authors.forename: Salmo
authors.initials: S
authors.lastname: Raskin
authors.forename: Lineu Cesar
authors.initials: LC
authors.lastname: Werneck
authors.forename: Wilson Marques
authors.initials: WM
authors.lastname: Junior
authors.forename: Vitor
authors.initials: V
authors.lastname: Tumas
mesh_terms: D000328:Adult; D001938:Brazil; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005260:Female; D006801:Humans; D006816:Huntington Disease / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008875:Middle Aged; D019680:Trinucleotide Repeat Expansion / Q000235:genetics*; D055815:Young Adult
chemical_list: D008565:Membrane Proteins; C412507:junctophilin