TY - JOUR
T1 - Huntington's disease-like 2
T2 - A clinical, pathological, and molecular comparison to Huntington's disease
AU - Margolis, Russell L.
AU - Holmes, Susan E.
N1 - Funding Information:
The authors would like to thank Drs. Elizabeth O'Hearn, Adam Rosenblatt, Dobrila Rudnicki, Juan Troncoso, and Christopher A. Ross for essential contributions to the study of HDL2. We would also like to express our appreciation to the families who have volunteered to participate in our research studies. This work was funded by a Lieberman Award from the Hereditary Disease Foundation to R.L.M., and NIH NS16375.
PY - 2003/9
Y1 - 2003/9
N2 - Huntington's disease-like 2 (HDL2) is a recently described disorder caused by a CTG/CAG expansion mutation on chromosome 16q24.3. Like Huntington's disease (HD), it is an adult onset, progressive, neurodegenerative autosomal dominant disorder clinically characterized by abnormal movements, dementia, and psychiatric syndromes. Almost all known affected individuals are of African ancestry. Pathologically, it is very similar to HD, with prominent cortical and striatal atrophy and intranuclear inclusions. Most surprisingly, however, the available evidence suggests that it is not a polyglutamine disease. Rather, the repeat expansion is located within junctophilin-3 in the CTG orientation. Here we review the clinical, pathological, and molecular features of HDL2 in comparison with HD, and speculate about how the distinct mutations of these disorders lead to such similar clinical and pathological phenotypes.
AB - Huntington's disease-like 2 (HDL2) is a recently described disorder caused by a CTG/CAG expansion mutation on chromosome 16q24.3. Like Huntington's disease (HD), it is an adult onset, progressive, neurodegenerative autosomal dominant disorder clinically characterized by abnormal movements, dementia, and psychiatric syndromes. Almost all known affected individuals are of African ancestry. Pathologically, it is very similar to HD, with prominent cortical and striatal atrophy and intranuclear inclusions. Most surprisingly, however, the available evidence suggests that it is not a polyglutamine disease. Rather, the repeat expansion is located within junctophilin-3 in the CTG orientation. Here we review the clinical, pathological, and molecular features of HDL2 in comparison with HD, and speculate about how the distinct mutations of these disorders lead to such similar clinical and pathological phenotypes.
KW - Basal ganglia
KW - Caudate
KW - Huntington's disease
KW - Inclusion
KW - Junctophilin
KW - Neurodegeneration
KW - Striatum
KW - Trinuleotide repeat expansion
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U2 - 10.1016/S1566-2772(03)00061-6
DO - 10.1016/S1566-2772(03)00061-6
M3 - Article
AN - SCOPUS:0141605228
SN - 1566-2772
VL - 3
SP - 187
EP - 196
JO - Clinical Neuroscience Research
JF - Clinical Neuroscience Research
IS - 3
ER -