George Huntington first encountered patients with the disease subsequently given his name at the age of 8 while accompanying his father and grandfather on their medical rounds. In 1872, in his twenty-first year, he described this disease so accurately and succinctly that the disease was later named after him. We have explored, through contact with previously unpublished family records and docum...

Huntington disease (HD) is associated with expansions of a CAG trinucleotide repeat in the HD gene. Accurate measurement of a specific CAG repeat sequence in the HD gene in 92 Brazilian controls without HD, 44 Brazilian subjects with clinical findings suggestive of HD and 40 individuals from 6 putative HD families, showed a range from 7 to 33 repeats in normal subjects and 39 to 88 repeats in a...

To provide a systematic description of component movements of upper facial chorea in Huntington disease, consecutive videos of 25 active patients with confirmed diagnosis were scored on eye opening, eye closing, and procerus/corrugator contractions. Of the 25 patients evaluated, 76% exhibited intermittently widened palpebral fissures associated with frontalis contractions. Brief periods of repe...

243. Watch Out! Syphilis Is Back – Case Series of Four Cases of Ocular syphilis Hesham Awadh, MD; Haresh Visweshwar, MD; Jacob Kilgore, MD and Kara Willenburg, MD; Internal Medicine, Marshall University – Joan C Edwards School of Medicine, Huntington, West Virginia, Internal Medicine, Marshall University – Joan C Edwards School of Medicine, Huntington, West Virginia, Medicine-Pediatrics, Marsha...

Huntington disease (HD) is an autosomal-dominant neurodegenerative disorder that primarily affects medium spiny striatal neurons (MSN). HD is caused by polyglutamine (polyQ) expansion (exp) in the amino-terminal region of a protein huntingtin (Htt). The connection between polyQ expansion in Httexp and MSN neurodegeneration remains elusive. Here we discuss recent data that link polyQ expansion i...

Transcriptional dysregulation is an early feature of Huntington disease (HD). We observed gene-specific changes in histone H3 lysine 4 trimethylation (H3K4me3) at transcriptionally repressed promoters in R6/2 mouse and human HD brain. Genome-wide analysis showed a chromatin signature for this mark. Reducing the levels of the H3K4 demethylase SMCX/Jarid1c in primary neurons reversed down-regulat...

Huntington disease is a neurodegenerative disorder transmitted as an autosomal dominant trait. It is the first neurological disease for which presymptomatic testing has been available for 20years in France. Follow-up of mutation carriers provided a better understanding of the presymptomatic phase of the disease and will change medical practice. Studying this phase led to the identification of c...

BACKGROUND Huntington disease (HD) is a genetic neurologic disorder. Weight loss is common in HD and is related to progression of the disease, but the cause of weight loss remains unclear. OBJECTIVE The study objective was to compare 24-h energy expenditure (EE) and energy intake in persons with early midstage HD with those of matched control subjects to determine how HD affects energy balanc...

Huntington disease (HD) is a hereditary neurodegenerative disorder characterized by motor, psychiatric, and cognitive symptoms. The genetic defect responsible for the onset of the disease, expansion of CAG repeats in exon 1 of the gene that codes for huntingtin on chromosome 4, has been unambiguously identified. On the other hand, the mechanisms by which the mutation causes the disease are not ...