Huntington’s Disease
Dr. Alberto Salmoiraghi
Consultant Psychiatrist & Medical Director
Mental Health & Learning Disability Division
Betsi Cadwaladr University Health Board
Honorary Senior Lecturer
University of Liverpool
University of Bangor
Plan of the talk
► Epidemiology
and statistics
► The movement/motor symptoms
► Neuropsychiatric symptoms
► Symptomatic management
► North Wales Huntington’s clinic
What is it?
► Huntington’s
disease (HD) is a progressive,
fatal neurodegenerative disorder causing
abnormal movements, psychiatric
disturbances and cognitive decline
► Life expectancy 15-20 years
► 10% Juvenile
► 10% over 60
Genetics
► Chromosome
4
► Autosomal dominant
► CAG repeats:
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Under 27: normal
27-35: normal, may expand
36-39: abnormal, reduced penetrance
More than 40: abnormal
How frequent is HD?
► Pringsheim
T et al. (2012) The incidence
and prevalence of Huntington’s Disease: A
systematic review and meta-analysis.
Movement Disorders 27(9) 1083-1091
 Based on genetic confirmation
 Prevalence in Europe/N. America and Oceania:
5.7 per 100.000
 Prevalence in Asia: 0.4 per 100.000
How frequent is HD in UK?
► Evans
STJ et al (2013) Prevalence of adult
Huntington’s disease in the UK based on
diagnoses recorded in general practice records
doi:10.1136/jnnp-2012-304636
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
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Between 1990-2010
21 year old and over
Prevalence 12.3 per 100.000 (95% CI 11.2-13.5)
Highest in NE England and Scotland
Wales 8.6 per 100.000 (5.1-13.6)
Similar in male/female
Possibly under estimated prevalence
Motor abnormalities
► Hyperkinetic:
 Chorea
 Dystonia
► Hypokinetic

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(25%):
Bradykinesia
Rigidity
Clumsiness
Reduced mobility
Problems with speech and swallowing
Movement disorder
► Changes
over time
► Dysphagia very disabling, needs to be
treated at early stages. Common cause of
death
Treatment
► Chorea
 Olanzapine; Risperidone; Quetiapine; Sulpiride;
Haloperidol
 Clonazepam; Diazepam
 Tetrabenazine
► Rigidity,
spasticity and dystonia:
 Clonazepam
 Baclofen
Neuro-psychiatric symptoms:
irritability and temper outbursts
► Very
common
► Maybe associate to depression
► Associated with lack of control of responses
► Treatment:
►predictable
daily schedule reduces fear and
confusion
►Encourage person to take decision as long as
possible
Neuro-psychiatric symptoms:
unawareness
► Inability
to recognise their own disability
► Sometimes called “anosoagnosia” or
“organic denial”
► Cause of frustration and anger
► May delay interventions
Neuro-psychiatric symptoms:
depression
► Up
to 30% of patients
► Precedes chorea by average 5.1 years
► Treatment:
 Conventional antidepressants
 Higher doses and longer duration may be
necessary
 High relapse rates
Neuro-psychiatric symptoms: apathy
► Lack
of motivation and interests
► Loss of spontaneity
► Education of family and patients
► Difficult to differentiate from depression
► Made worse by neuroleptics
Neuro-psychiatric symptoms:
psychotic symptoms
► Less
common
► Respond to neuroleptics
► Lower doses
Other symptoms: insomnia
► Very
common in mid-late stages
► Loss of normal circadian rhythm
► Possibly related to degeneration of
hypothalamus
► Little or no response to hypnotics
► Sleep hygiene
► Melatonin
Other symptoms: increased
metabolism
► Catabolic
disorder
► Severe weight loss
► Diet very important
► Higher calories intake
► ? Intermittent fasting
North Wales Clinic
► Tertiary
care
► Advisory clinic
► Working closely with HDA
► Wrexham and Colwyn Bay (feedback
positive)
► No emergency (CMHT)
North Wales Clinic
►Written
clinical protocol
►Pathways with neurologists and
genetists
►Neuroscience network
What do we offer?
►Neurological
examination, psychiatric
assessment
►Cognitive assessment (MOCCA),
behavioural assessment
►Psycho-education to patients and
family
►Advice to GPs and Colleagues on
medications and management
►55 patients, another 15 potential
Who are the members?
► Consultants:
Dr. Salmoiraghi & Dr. Sambhi
► HDA regional advisors: Alwena Potter & Di
Lyes
► Research Network: Dr. Julia Roberts, Dr.
Pamela Martin-Forbes, Dr. Victoria Garvey
► One session administrative support
ENROLL-HD
► Longitudinal
observational study
► Collects data on symptoms, cognition and
motor abnormalities
► Collect blood for genetic investigation
► April 17: 13.435 participants from 138
active sites in 14 countries
► Application made in February 2014
► Accepted February 2015
Advantages
► Offers
opportunity to patients to participate
without travelling
► Will establish the team further
► Will allow to create a post
► Brings research to North Wales
Feedback so far
► 62
patients
► 9 ENROLL-HD
► Environment is very accommodating and
peaceful
► Less travel
► Competent staff
► Management is timely
► Good relationship with primary and
secondary care colleagues
Thank you