Detection of Huntington's disease decades before diagnosis: the Predict-HD study.

Full Abstract

OBJECTIVE:
The objective of the Predict-HD study is to use genetic, neurobiological and refined clinical markers to understand the early progression of Huntington's disease (HD), prior to the point of traditional diagnosis, in persons with a known gene mutation. Here we estimate the approximate onset and initial course of various measurable aspects of HD relative to the time of eventual diagnosis.

METHODS:
We studied 438 participants who were positive for the HD gene mutation, but did not yet meet the diagnostic criteria for HD and had no functional decline. Predictability of baseline cognitive, motor, psychiatric and imaging measures was modelled non-linearly using estimated time until diagnosis (based on CAG repeat length and current age) as the predictor.

RESULTS:
Estimated time to diagnosis was related to most clinical and neuroimaging markers. The patterns of association suggested the commencement of detectable changes one to two decades prior to the predicted time of clinical diagnosis. The patterns were highly robust and consistent, despite the varied types of markers and diverse measurement methodologies.

CONCLUSIONS:
These findings from the Predict-HD study suggest the approximate time scale of measurable disease development, and suggest candidate disease markers for use in preventive HD trials.

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Author information

Author/s: Paulsen, J S (JS); Langbehn, D R (DR); Stout, J C (JC); Aylward, E (E); Ross, C A (CA); Nance, M (M); Guttman, M (M); Johnson, S (S); MacDonald, M (M); Beglinger, L J (LJ); Duff, K (K); Kayson, E (E); Biglan, K (K); Shoulson, I (I); Oakes, D (D); Hayden, M (M); Predict-HD Investigators and Coordinators of the Huntington Study Group;

Affiliation: University of Iowa, Roy J and Lucille A Carver College of Medicine Research, 1-305 Medical Education Building, Iowa City, IA 52242-1000, USA. jane-paulsen@uiowa.edu

Grants: 16375 (Agency:United States PHS) ; (Agency:United States Howard Hughes Medical Institute)

Journal and publication information

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry), published in England. (Language: eng)

Reference: 2008-Aug; vol 79 (issue 8) : pp 874-80

Dates: Created 2008/07/22; Completed 2008/07/31;

PMID: 18096682, status: MEDLINE (last retrieval date: 11/6/2008)

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MeSH headings (categories)

This article was linked to the MESH Headings shown below.

Adult
Aged
Attention
Caudate Nucleus - pathology
Chromosomes, Human, Pair 4 - genetics
Early Diagnosis
Female
Genetic Screening
Humans
Huntington Disease - diagnosis; genetics
Longitudinal Studies
Magnetic Resonance Imaging
Male

Mental Recall
Middle Aged
Nerve Tissue Proteins - genetics
Neurologic Examination
Neuropsychological Tests
Nuclear Proteins - genetics
Olfaction Disorders - diagnosis; genetics
Predictive Value of Tests
Probability
Putamen - pathology
Reaction Time
Trinucleotide Repeats
Verbal Learning

Associated Chemicals: HD protein, human (0) ; Nerve Tissue Proteins (0) ; Nuclear Proteins (0)

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