Introduction
Epidemiology
Clinical description
The motor symptoms and signs
Behaviour and psychiatric symptoms and signs
Dementia
Secondary symptoms and signs
Juvenile Huntington's disease
Development of the disease
A. Preclinical stage | |
---|---|
A1. At-risk stage (50%), one affected parent
| - Anxiousness for the future |
- Uncertainty about carriership | |
- Care for affected parent | |
A2.Gene carrier, premanifest stage
| - Certainty about carriership |
- New position in the family | |
- Renewed uncertainty about onset | |
- Care for affected parent and own family | |
A3. Transition phase
| - Strong feelings about changes in cognition |
- Changes in behaviour | |
- Changes in motor activity | |
- Uncertainty remains | |
B. Clinical stage
| |
B1. Clinical stage I
| - Presentation first symptoms: neurological, cognitive or psychiatric |
- Chorea most prominent symptom | |
- Independent in ADL | |
- Burden for the family mainly psychological | |
- Rare death, unless suicide | |
B2 Clinical stage II
| - Motor disturbance more generalised |
- Physical dependence starts | |
- Burden for family psychological and physical | |
- Death by other cause, suicide, euthanasia | |
B3. Clinical stage III
| - Severe generalised motor disturbance |
- Almost complete physical dependence | |
- Patient completely dependent on care | |
- Burden for family mainly physical | |
- Death |
Assessments
Aetiology
Diagnosis
Differential Diagnosis
Hereditary | - Huntington's disease |
---|---|
- Benign hereditary chorea | |
- Neuroacanthocytosis | |
- DentatoRubroPallidoLuysianAtrophy (DRPLA) | |
- Wilson disease | |
Rheumatic disorders
| - Sydenham chorea |
- Chorea gravidarum | |
Drug-induced
| - Neuroleptic drugs |
- Oral anticonceptive drugs | |
- Phenytoine | |
- Levo-dopa | |
- Cocaine | |
Systemic disorders
| - Systemic Lupus Erythematodes (SLE) |
- Thyrotoxicosis | |
- Polycythemia vera | |
- Hyperglycemia | |
- AIDS | |
- Paraneoplastic |
Mutation | Locus | |
---|---|---|
1. HDL1
| octapeptiderepeatexpansion PRNP-gen | 20pter.p12 |
2. HDL2
| CTG/CAG-expansion JPH3-gen | 16q24.3 |
3. HDL3
| Not known | 4p15.3 |
4. SCA17 (HDL4)
| CAG/CAA-expansion TBP-gen | 6q27 |
5. SCA1/2/3
| CAG-expansion ATXN1/2/3-gen | 6p23, 12q24, 14q24-q31 |
6. DRPLA
| CAG-expansion ATN1-gen | 12p13 |
7. Chorea-acanthocytosis
| mutation VPS13A-gen | 9q |
8. McLeod syndrome
| mutation XK-gen | Xp21.2-21.1 |
9. NBIA2
| mutation PLA2G6-gen | 22q13.1 |
10. NBIA1/PKAN
| mutation PANK2-gen | 20p13-12.3 |
11. Friedreich ataxia
| GAA-expansion FXN-gen | 9q13; 9p23-p11 |
Genetic Counselling
Prenatal diagnosis
Management including treatment
Motor signs
Tiapride | max 600 mg |
---|---|
Olanzapine
| max 20 mg |
Tetrabenazine*
| max 200 mg |
Pimozide
| max 6 mg |
Risperidone
| max 16 mg |
Fluphenazine
| max 10 mg |
*When tetrabenazine is officially approved per country, this drug will probably become the drug of first choice based on the literature. | |
Hypokinesia
| None |
A. Depression | B. Aggression | ||
---|---|---|---|
Citalopram
| max 60 mg | Citalopram | max 60 mg |
Fluoxetine
| max 60 mg | Sertraline | max 200 mg |
Mirtazapine
| max 45 mgr | Olanzapine | max 20 mg |
Valproinezuur
| max 2000 mg | Dipiperon | max 360 mg |
Carbamazepine
| max 1600 mg | Haloperidol | max 10 mg |