Huntington's disease-like 2 in Brazil--report of 4 patients.
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.
Rodrigues
Guilherme G Riccioppo
GG
Department of Neurology, Ribeirao Preto School of Medicine, Ribeirao Preto, SP Brazil.
Walker
Ruth H
RH
Brice
Alexis
A
Cazeneuve
Cécile
C
Russaouen
Odile
O
Teive
Helio A G
HA
Munhoz
Renato Puppi
RP
Becker
Nilson
N
Raskin
Salmo
S
Werneck
Lineu Cesar
LC
Junior
Wilson Marques
WM
Tumas
Vitor
V
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
D008565:Membrane Proteins; C412507:junctophilin