Huntington's Disease

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Hereditary progressive neurodegenerative disorder of the basal ganglia
- initially described in 1872

Back 1

Huntington's Disease

Front 2

Usually strikes mid-life, between the ages of ___-___, although it can also affect children and the elderly
- equally distributed among gender and race

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30-50 years

Front 3

Normal range; won't develop HD

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< 28 CAG repeats

Front 4

Won't develop HD, but next generation is at risk (number of CAG repeats tends to increase in subsequent generations)

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29-34 CAG repeats

Front 5

Some, but not all, individuals will develop HD; next generation is at risk

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35-39 CAG repeats

Front 6

Will develop HD

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40 or more CAG repeats

Front 7

Rough ____ between the number of CAG repeats and age of onset of HD

Back 7

Inverse correlation

Front 8

Does not accurately predict what sx an individual will have, or how rapid/severe the disease course will be

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Number of CAG repeats

Front 9

Severe loss of neurons in the ____ and putamen (striatum) with subsequent astrocytosis. With the loss of cells, the head of the ____ becomes shrunken and there is dilation fo the anterior horns of the ventricles
- Neuronal degeneratin also seen within the temproal and frontal lobes of the cerebral cortex and in limbic areas that have to do with behavior

Back 9

"Caudate" - Pathology of PD

Front 10

In early stages of HD, ____ pathway is not working, but direct is, so now there is no inhibition of unwanted movements.

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Indirect pathway

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In later stages of HD, both ___ and ___ pathways (all striatal projection neurons) degenerate, as well as cortical neurons, resulting in a relatively hypokinetic state

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Direct and Indirect pathways

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- Mechanisms for cell death in HD not known, but some evidence to suggest:
- Apoptosis
- Glutamate Exictotoxicity
- Mitochondrial Dysfunction

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Pathophysiology of HD

Front 13

activation of a programmed cell death pathway

Back 13

apoptosis

Front 14

intrastriatal injections of NMDA glutamate receptor agonists reproduce the neurological features of HD

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Glutamate Excitotoxicity

Front 15

impaired energy metabolism makes cells vulnerable to excessive glutamate stimulation

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Mitochondrial dysfunction

Front 16

- Movement Disorders
- Cognitive Disorders
- Psychiatric Disorders
- S/S vary from person to person.

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Sx of HD

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- Figidty
- Incoordination
- Involuntary movements (chorea, dystonia)
- Difficulties with voluntary movements (eg. speech, swallowing, balance, walking)

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Common Motor Sx of HD

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- Short term memory problems
- problems organizing, coping, concentrating
- problem solving
- perseveration
-dementia

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Common Cognitive Sx of HD

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- Irritability
- Depression
- Anxiety
- Apathy
- Aggressive outbursts
- Obsessiveness
- Impulsivity
- Mood swings
- Social withdrawal
- Suicidal ideation

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Common Psychiatric Sx of HD

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- increased sway in quiet stance
- delayed responses to perturbations

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Balance Instability in HD

Front 21

- Bradykinesia
- Hypometria (shorter steps)
- Increased BOS
- Greater variability of gait parameters
- Impaired/disordered processing of sensory feedback

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Giat Impairments in HD

Front 22

If there is a positive family Hx of HD, the presence of an extrapyramidal movement disorder is usually enough to confirm ___
- Conventional neurological examinations and the presence of depression and other psychological disturbances are not enough to provide an accurate ___

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Diagnosis of HD

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- Neuroleptics (DA blockers) - haloperidol, fluphenazine, risperidone, olanzapine (also are antipsychotics)
- DA-depleting drugs - reserpine and tetrabenazine

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Medical Tx of HD Chorea

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Tricyclic antidepressants and serotonin reuptake inhibitors

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Meical Tx of HD Depression

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atypical neurloptic drugs

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Medical Tx of HD irritability and aggressive behaviors

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- A 14 oint scale that measures disability and participation restrictions in important life skills such as work and ADLs.
- Average annual rate of decline on the ___ for individuals with HD ranges from 0.63-0.72 points
- a portion of the UHDRS used to stage progression

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Total Functional Capacity Scale (TFC)

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- Comprised of motor assessment, cognitive assessment, behavioral assessment, and functional assessment
- Motor assessment includes 15 items each rated on a 0-4 scale (0=normal)

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Unified Huntington's Disease Rating Scale (UHDRS)

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- Relentlessly progressive disorder leading to disability and death
- Duration of illness varies considerably with a mean approximately 19 years. MOst pts survive ___-___ years after the onset of illness

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HD Prognosis: 15-25 years

Front 29

Pneumonia and cardiovascular disease

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Most common primary causes of death in HD