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...

OBJECTIVE Genetic counseling for individuals undergoing presymptomatic testing is lacking in India although testing is easily available. This has an impact on family members of Huntington's disease (HD), an autosomal dominant disease, wherein the age at onset of symptoms varies. AIM We examine if attitudes differ towards presymptomatic testing for HD amongst HD family members, physicians and ...

Huntington disease (HD) is an autosomal-dominant, incurable, progressive disorder that manifests with chorea and behavioral and cognitive impairment. The disease usually occurs during the fourth or fifth decade of life; however, it may present at any age. Clinical suspicion is confirmed by genetic testing. Death occurs, on average, 15 to 20 years after the onset of symptoms. Here we report abou...

BACKGROUND There have been a few case reports of motor neuron disease in association with Huntington disease (HD). OBJECTIVE To describe a patient presenting with prominent fasciculations, chorea, and possible amyotrophic lateral sclerosis (ALS) in whom genetic testing revealed HD mutation. DESIGN Case report. SETTING University of Texas Southwestern Medical Center, Dallas. Patient  A 69-...

A total of 63 families with Huntington disease (HD) were examined for linkage between HD and G8 (D4S10). The families included 57 Caucasian, four Black American, and two Japanese. The combined maximum lod score was 87.69 at theta = 0.04 (99% confidence interval 0.018-0.071). The maximum frequency of recombination was 0.03 in males and 0.05 in females. Fifty-seven families gave positive lod scor...

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 ...

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 one of a growing number rare genetic diseases characterized by the inheritance an increased short tandem repeats within affected gene. Many these repeat expansion disorders (REDs) affect brain. Although mutant allele necessary first step for manifestation, second further inherited expanded repeats, particularly in neurons brain, also appears to play critical role towa...

BACKGROUND AND OBJECTIVE Huntington's disease (HD) is an inherited neurodegenerative disorder that heavily affects the patient's motor, cognitive, and psychological functions. Yet, very few studies have measured the impact of this disease on the patient's health-related quality of life (HRQoL) with specific and validated instruments. The aim of this study was to explore the impact of HD on the ...