HUNTINGTON’S DISEASE
Tonje Hem, Nadine Herzog, Marta Cholewinska


ETHIOLOGY
•Autosomal dominant disease
•>36 CAG triplet repeats in huntington gene on chromosome 4
•Mutated proteins aggregating in nucleus caudatus causing symptoms of diminished brain functions
•Anticipation : increased numbers of CAG repeats in subsequent generations   (->earlier onset of
symptoms)

EPIDEMIOLOGY
•Worldwide prevalence 5-10 cases per 100.000 people
•Similar risk for male and female
•Peak incidence : ∼ 40 years of age
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SYMPTOMS – INITIAL STAGE
•Movement dysfunction (chorea, oculomotor disorders..)
•Hyperreflexia
•Sensory deficits
•Autonomic deficits (hyperhidriosis, urinary incontinence)
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SYMPTOMS – ADVANCED STAGE
•Movement dysfunction ( hypokinetic motor symptoms, akinetic mutism, motor impersistence,
dysarthria and dysphagia)
•Dementia
•Depression (suicidal thoughts)
•Aggression and psychosis
•Apathy
•Cachexia (due to dysphagia and high energy consumption)

DIAGNOSIS
•Patient history
•Genetic testing (also for prediction of disease in embryo)

TREATMENT
•Ongoing physiotherapy, ergotherapy, logotherapy and psychotherapy (if needed)
•Chorea movement (tetrabenazine, clozapine, amantadine)
•Psychosis (atypical neuroleptics - clozapine)
•Depression (SSRIs – citalopram)

PROGNOSIS
•Progressive disease non curable
•Mean duration of illness : app. 20 years
•Cause of death : aspiration pneumonia, respiratory insufficiency, suicide

THANK YOU FOR YOUR ATTENTION