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Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Whole-brain Segmentation and Change-point Analysis of Anatomical Brain MRI—Application in Premanifest Huntington's Disease

Published on: June 9, 2018

A liminal stage after predictive testing for Huntington disease.

Marcela Gargiulo^1,2,3, Sophie Tezenas du Montcel^4,5, Marie France Jutras⁶

¹Laboratory of Clinical Psychology, Psychopathology and Psychoanalysis (PCPP, EA 4056), University Paris Descartes, Sorbonne Paris City, France.

Journal of Medical Genetics

|January 15, 2017

Summary

Knowing Huntington disease (HD) carrier status does not trigger disease onset. However, it increases self-observation, though not necessarily the accurate identification of early HD symptoms.

Keywords:

Ethics Genetic screening/counselling Neurology

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Area of Science:

Neuroscience
Genetics
Psychology

Background:

Predictive testing for Huntington disease (HD) provides crucial genetic information.
Knowledge of carrier status may influence disease perception and symptom awareness.

Purpose of the Study:

To investigate if knowing one's Huntington disease (HD) mutation carrier status triggers disease onset.
To determine if this knowledge affects self-awareness and the ability to identify early HD signs and symptoms.

Main Methods:

75 HD mutation carriers were assessed using the Unified Huntington's Disease Rating Scale (UHDRS) motor score.
Disease burden score-based onset estimation was compared with UHDRS findings.
Qualitative data were gathered through questionnaires and semistructured interviews.

Main Results:

Knowledge of HD carrier status did not significantly alter age at onset compared to estimations.
Self-observation was prevalent among carriers, regardless of motor symptom presence.
Carriers' self-perceived symptoms did not always align with medical assessments or motor scores.

Conclusions:

Disease burden score may not accurately predict age at onset for Huntington disease (HD).
The transition to symptomatic HD is often experienced as ambiguous.
Discrepancies between patient perception and medical evaluation of onset highlight challenges for clinical trials.