1. Huntington disease Vicki Wheelock MD HDSA Center of Excellence at UC Davis

2. Definition of HD Slowly progressive, hereditary brain disease that causes changes in movement, thinking and behavior Onset: commonly ages 30-50 Diagnosis is made by neurologist based on symptoms and examination, and may be confirmed by a blood test for genetic testing

3. Understanding the symptoms of HD…. Gene changes lead to………. brain changes

4. Genetics of HD Normal number: <31 CAG “Gray area”32-38 CAG Huntington disease: > 38 CAG GENE Protein

5. Brain changes in HD MRI scan Microscopic view Aylward EH. Brain Research Bulletin 2003;62:137-141

6. Huntington Disease Stages Stage 1 – S– Slightly lower performance at work; independent at home Stage 2 –C–Can still work (lower level), still mostly independent at home Stage 3 –D–Difficult to work, starts to needs help with financial, home activities Stage 4 –U–Unable to work. Needs major assistance with care Stage 5 –F–Full-time nursing care required

7. EMOTIONAL Symptoms in HD MOTOR COGNITIVE

8. Organizing Concentrating Prioritizing Starting/stopping activities Multi-tasking Creativity Memory Episodic anger Irritability Changes in sleep/wake cycle Impulsiveness NormalAdvanced HD Behavior changes in HD

9. Chorea: involuntary movements Restless, fidgets Balance problems Fine motor tasks Slowness of movement Trouble swallowing NormalAdvanced HD Slow eye movements Movement changes in HD

10. Motor disorder Too much movement –M–Motor restlessness –C–Chorea –D–Dystonia –T–Tremor Too little movement –S–Slowness of movement

11. Motor symptoms Loss of control of movement Decreased control, especially in –Planning and selecting –Sequencing –Learning new movements –Performing movements during interference

12. Chorea: repetitive, involuntary fragments of movement Grimacing Blinking or opening eyes Mouth, lip or tongue movements Arm, hand movements Trunk, hips, pelvis move Leg movements Mostly seen during relaxed state or when focusing on other things

13. Slowness of movement in HD Loss of facial expression Slow to stand from seated position Difficulty turning over in bed Finger and hand movements are slower –Buttoning –Writing –Eating

14. Change in balance and falls Loss of balance due to minor tripping is sometimes an early HD symptom More often, falls don’t occur until later stages of HD Chorea can make it easier to fall TIPS to help: –Balance exercises –Slow down! –Use vision to compensate: look where you are walking, “light up the runway” between bedroom and bathroom at night –Be careful when carrying things

15. Swallowing problems Assessment by speech and language therapist is extremely helpful Specific advice about strategies to reduce choking –Head position –Textures of food Medications have limited role; ?Prozac

16. Thinking changes in HD Early Stage –Normal IQ; only specialized tests show problems, but work/home performance may decline Middle Stage –Memory, visuospatial deficits, impaired judgment Late Stage –The person with HD is aware, but communication is difficult

17. The Cognitive Disorder: Executive Function Organizing Prioritizing Controlling impulses Monitoring self- awareness Beginning and ending activities Creative thinking Problem-solving

18. Emotional problems in HD Depression40 - 80% Anxiety30 - 40% Obsessions/compulsions10 - 20% Irritabilitycommon Apathy20% Episodic angercommon Psychosis5%

19. What can we do to help people with HD? H · S · G Huntington · Study · Group SET-HD HDSA

20. Treatments for HD No definite treatments exist now to help slow down HD Research is leading to possible treatments –Minocycline –Cysteamine –Ethyl EPA (fish oil) –Coenzyme Q10 –Creatine –Others…..

21. Symptomatic treatment for HD Motor symptoms Cognitive symptoms Emotional/behavioral symptoms Swallowing problems Nutrition

22. Motor symptoms Chorea –Amantadine, Klonopin, Zyprexa, Haldol, Prolixin, Tetrabenazine Slowness, rigidity –Amantadine, Sinemet Dystonia –Klonopin, Botox

23. Behavioral/thinking symptoms “Memory” problems –Aricept, Reminyl, memantine, others Apathy –Structure, behavioral treatments –Stimulant medications Irritability –Seek triggers, set structure –?Depressed or anxious – treat those symptoms Episodic anger –See above –Sometimes mood stabilizers (Zyprexa)

24. Emotional symptoms Depression –SSRI meds (Prozac, Paxil, Zoloft, Welbutrin etc) Anxiety –SSRI meds, sometimes Klonopin Obsessions/compulsions –SSRI meds Paranoia, delusions (false beliefs), hallucinations –Antipsychotics (Zyprexa, Prolixin, Haldol, Risperdal, etc)

25. Resources for families and patients www.HDSA.org www.huntingtonproject.org www.hdsanortherncalifornia.org www.HDteam.org