The Clinical Core's primary function is to provide patients and patient material for HD research projects within our program and our institution, and to investigators at other institutions. The Core accomplishes this by diagnosing and following approximately 300 well-characterized HD patients, many of whom are drawn from a representative Maryland sample first identified in 1980. Approximately 40 new patients according to a protocol developed for HD by the core staff. The protocol provides detailed documentation of time and mode of onset, neurological features, functional capacity, cognitive state, and psychiatric state. For this renewal, new patients will be MRI scanned at the time of diagnosis and every two years thereafter. Current clinical data are maintained in a database to facilitate research project PIs choosing patients appropriate to their protocols, and correlate their findings with clinical data. The Clinical core also facilitates the piloting of new research projects as opportunities arise, and core faculty carry out research on diagnosis and epidemiology. During the next funding period these research efforts will include: 1) development of standardized diagnostic criteria for general use in research classification; and 2) documentation of individual and familial variation in course of illness and the correlates of this variation. The latter will use the prospective, longitudinal data collected on the Maryland HD sample, ascertained during the first funding period. Finally, the clinical core is active in information transfer through publications, participation in lay organizations, and provision of clinical and research training in HD.

Agency
National Institute of Health (NIH)
Institute
National Institute of Neurological Disorders and Stroke (NINDS)
Type
Specialized Center (P50)
Project #
5P50NS016375-15
Application #
3738276
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
15
Fiscal Year
1995
Total Cost
Indirect Cost
Name
Johns Hopkins University
Department
Type
DUNS #
045911138
City
Baltimore
State
MD
Country
United States
Zip Code
21218
Wu, Dan; Faria, Andreia V; Younes, Laurent et al. (2017) Mapping the order and pattern of brain structural MRI changes using change-point analysis in premanifest Huntington's disease. Hum Brain Mapp 38:5035-5050
Faria, Andreia V; Ratnanather, J Tilak; Tward, Daniel J et al. (2016) Linking white matter and deep gray matter alterations in premanifest Huntington disease. Neuroimage Clin 11:450-460
Krause, Amanda; Mitchell, Claire; Essop, Fahmida et al. (2015) Junctophilin 3 (JPH3) expansion mutations causing Huntington disease like 2 (HDL2) are common in South African patients with African ancestry and a Huntington disease phenotype. Am J Med Genet B Neuropsychiatr Genet 168:573-85
Ross, Christopher A; Pantelyat, Alex; Kogan, Jane et al. (2014) Determinants of functional disability in Huntington's disease: role of cognitive and motor dysfunction. Mov Disord 29:1351-8
Hua, Jun; Unschuld, Paul G; Margolis, Russell L et al. (2014) Elevated arteriolar cerebral blood volume in prodromal Huntington's disease. Mov Disord 29:396-401
Younes, Laurent; Ratnanather, J Tilak; Brown, Timothy et al. (2014) Regionally selective atrophy of subcortical structures in prodromal HD as revealed by statistical shape analysis. Hum Brain Mapp 35:792-809
Unschuld, Paul G; Liu, Xinyang; Shanahan, Megan et al. (2013) Prefrontal executive function associated coupling relates to Huntington's disease stage. Cortex 49:2661-73
Biglan, K M; Dorsey, E R; Evans, R V V et al. (2012) Plasma 8-hydroxy-2'-deoxyguanosine Levels in Huntington Disease and Healthy Controls Treated with Coenzyme Q10. J Huntingtons Dis 1:65-9
Unschuld, Paul G; Joel, Suresh E; Liu, Xinyang et al. (2012) Impaired cortico-striatal functional connectivity in prodromal Huntington's Disease. Neurosci Lett 514:204-9
Unschuld, Paul G; Joel, Suresh E; Pekar, James J et al. (2012) Depressive symptoms in prodromal Huntington's Disease correlate with Stroop-interference related functional connectivity in the ventromedial prefrontal cortex. Psychiatry Res 203:166-74

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