Huntington's disease-like 2 in Brazil-Report of 4 patients

Huntington's disease-like 2 in Brazil-Report of 4 patients,10.1002/mds.22223,Movement Disorders,Guilherme G. Riccioppo Rodrigues,Ruth H. Walker,Alexis

Huntington's disease-like 2 in Brazil-Report of 4 patients   (Citations: 3)
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Huntington's disease-like 2 (HDL2) is a neurode- generative disorder found in people of African ancestry with clinical, radiological, and neuropathological manifes- tations 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 immedi- ately apparent. 2008 Movement Disorder Society Since the identification of the causative mutation for Huntington's disease (HD) and the availability of genetic testing, a number of patients have been identi- fied who presented with the core manifestations of HD, but who did not have the expected mutation.1-3 These patients are classified as having a Huntington disease- like (HDL) disorder. One of these phenotypically similar disorders, HDL2, affects almost exclusively patients of African ethnic background, and is caused by expansion of CAG/CTG triplets in exon 2A of the junctophilin 3 (JPH3) gene. Expansions greater than 40 repeats cause the disease.4,5 The junctophilins (JPHs) are proteins which are probably involved in regulation of the intra- cellular influx of calcium.6 The mechanism involved in neuronal death due to mutant JPH3 is unknown but may be related to the generation of RNA inclusions, rather than to the distinct polyglutamine-containing inclusions.7,8 We report four HDL2 cases from different families of probable African ancestry.
Journal: Movement Disorders - MOVEMENT DISORD , vol. 23, no. 15, pp. 2244-2247, 2008
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