By: David Shprecher, DO, MS
In November 2011, the Huntington Study Group hosted its annual meeting and the Fifth Annual Huntington Disease Clinical Research Symposium.
Huntington Study Group Meeting
Elizabeth Thompson, DNSc, RN, CGC, FAAN discussed special genetic research considerations, including consent, reporting results, and data sharing. The Database of Genotype & Phenotype (dbGaP) has been developed to improve dissemination of results and data sharing.1
Elizabeth Aylward, PhD overviewed the PREDICT-HD team’s identification of potential neuroimaging biomarkers that are reliable across sites, and that show cross-sectional outcomes associated with disease burden.2
Christopher Ross, MD, PhD discussed considerations for the use of neuroimaging biomarkers, including MR spectroscopy and functional MRI. Early in HD, findings of altered glutamate levels or functional connectivity patterns could reflect cell dysfunction rather than cell death.
Bernhard Landwehrmeyer, MD presented imaging data from the TRACK-HD team.3 Brain atrophy, which is a reliably detectable change in HD gene mutation carriers, was less distinct in carriers furthest from the projected onset of manifest HD symptoms.4
Fifth Annual Huntington Disease Clinical Research Symposium
Mary Edmondson, MD discussed how her career as a neurologist was influenced by her father, HC Canning, who lost his battle with HD in 1995.
Karen Anderson, MD reviewed behavioral changes associated with HD. Suicide in HD patients may be prevented by delaying a patient’s actions to allow impulsive thoughts or rage to pass.
Mark Groves, MD discussed a treatment algorithm, developed from an international survey of clinicians, for pharmacological treatment of irritability and perseverative behaviors in HD patients. 5 6
Eric Epping, MD PhD and Kevin Biglan, MD MPH presented PREDICT-HD data findings. 7 HD symptoms are reported more frequently by companions than by patients, and this apparent loss of patient insight into their symptoms worsens following diagnosis of manifest symptoms. Identifying and clinically defining disease onset is a challenge; multidimensional diagnosis results in earlier diagnosis and allows for identification of clinical phenotypes that are predominantly cognitive or predominantly behavioral.
Karen Marder, MD MPH reviewed the role of diet and exercise in HD. There is evidence for metabolic defects in HD. Individuals can maintain their weight with increased caloric intake.
Steve Hersch, MD PhD presented data on the transcriptional modulator H2A histone family member Y.8 This is a biomarker, expressed in both blood and brain, that completely distinguishes HD expansion carriers from non-carriers.