2. Autosomal dominant
Progressive
Neurodegenerative
5–10 per 100,000 in the Caucasian population
Roos RAC. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010;5:40.
Mestre T, Ferreira J, Coelho MM, Rosa M, Sampaio C. Therapeutic interventions for symptomatic treatment in Huntington’s disease. Cochrane Database Syst Rev.
2009;(3):CD006456.
3. Cytosine-adenine-guanine (CAG) trinucleotide
repeat expansion in the huntingtin protein
located on chromosome 4p16.3
Cell toxicity and dysfunction of neurons
Striatal and cortical atrophy
Coppen, E. M., & Roos, R. A. (2017). Current pharmacological approaches to reduce chorea in Huntington’s disease. Drugs, 77(1), 29-46.
4. Increasingly severe motor disturbances,
cognitive impairment, and psychiatric
symptoms
The mean age of disease onset is between 30
and 50 years (ranging from 2 to 85 years),
with the mean duration of the disease
between 17 to 20 years
van Duijn E, Craufurd D, Hubers AAM, Giltay EJ, Bonelli R, Rickards H, et al. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J
Neurol Neurosurg Psychiatry. 2014;85:1411–8.
Roos RAC. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010;5:40.
5. motor
psychiatricneurobehavior
Roos RAC. Huntington’s disease: a clinical review. Orphanet J Rare Dis. 2010;5:40.
van Duijn E, Craufurd D, Hubers AAM, Giltay EJ, Bonelli R, Rickards H, et al. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J
Neurol Neurosurg Psychiatry. 2014;85:1411–8.
6. Cognitive impairment Progrssive working
memory, executive dysfunction, and attention
deficits.
Behavioral and psychiatric symptoms in HD
include apathy, depression, irritability and
aggression, and obsessive-compulsive
behavior
Involuntary movements such as chorea,
dystonia, and tics, and impairments in
voluntary movements such as hypokinesia,
apraxia, and motor impersistence
Paulsen JS. Cognitive impairment in Huntington disease: diagnosis and treatment. Curr Neurol Neurosci Rep. 2011;11:474–83.
Roos RAC. Clinical neurology. In: Bates G, Tabrizi S, Jones L, editors. Huntington’s dis. 4th ed. Oxford: Oxford University Press; 2014. p. 25–35.
van Duijn E, Craufurd D, Hubers AAM, Giltay EJ, Bonelli R, Rickards H, et al. Neuropsychiatric symptoms in a European Huntington’s disease cohort (REGISTRY). J
Neurol Neurosurg Psychiatry. 2014;85:1411–8.
7. Striatal atrophy
Abnormal neurotransmission of the
dopamine, glutamate, and gamma-amino
butyric acid (GABA) systems
Postsynaptic dopaminergic dysfunction of
dopaminergic type 1 (D1) and type 2 (D2)
receptors in the striatum
Choreiform movements: overstimulation of
dopamine receptors
Coppen, E. M., & Roos, R. A. (2017). Current pharmacological approaches to reduce chorea in Huntington’s disease. Drugs, 77(1), 29-46.
8. Tetrabenazine (FDA approved)
Dopamine antagonists: tiapride, clozapine,
olanzapine, risperidone, quetiapine
Anti-glutamanergics: amantadine, riluzole
Aripiprazole
Benzodiazepines (such as clonazepam and
diazepam), haloperidol, and sulpiride
Potential New Treatment Options:
Deutetrabenazine, pridopidine
Coppen, E. M., & Roos, R. A. (2017). Current pharmacological approaches to reduce chorea in Huntington’s disease. Drugs, 77(1), 29-46.
9. Autosomal dominant, progressive,
neurodegenerative disease
Cortical and striatal atrophy
Motoric (choreiform movements),
neurobehavior, and psychiatric symptoms
Tetrabenazine is the only drug approved by
the US FDA for the treatment of chorea in
Huntington’s disease
