Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 1 de 1
Filter
Add more filters










Database
Language
Publication year range
1.
Mov Disord ; 23(15): 2244-7, 2008 Nov 15.
Article in English | MEDLINE | ID: mdl-18816802

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.


Subject(s)
Huntington Disease/genetics , Membrane Proteins/genetics , Trinucleotide Repeat Expansion/genetics , Adult , Brazil , DNA Mutational Analysis , Exons/genetics , Female , Humans , Huntington Disease/pathology , Magnetic Resonance Imaging , Male , Middle Aged , Young Adult
SELECTION OF CITATIONS
SEARCH DETAIL
...