We therefore designed a longitudinal multimodal in vivo MRI DTI and MRS study to investigate structural and neurochemical alterations associated with the disorder at different stages and brain structures (i.e. PFC striatum GP hippocampus and thalamus) to understand the nature of neural changes in transgenic YAC128 mice expressing the human full-length mutant HTT
We found that the HTTexon1 mRNA is present in fibroblasts from juvenile HD patients and can also be readily detected in the sensory motor cortex hippocampus and cerebellum of post-mortem brains from HD individuals particularly in those with early onset disease.
This study aims to establish the current state of the IT-15 (HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats compared with the ethnicity of individuals.
Although aging worsened the Unified Huntington's Disease Rating Scale scores independently of the genetic status intermediate alleles might confer a late-onset abnormal motor and cognitive phenotype.
alleles with a CAG repeat length of 36-38 occur at high frequency in the general population. The infrequent diagnosis of HD at this CAG length is likely due to low penetrance.
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