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is a neurodegenerative genetic that greatlyaffects muscle coordination and cognition.

The nerve cells in the brain slowly breakdownand atrophy.

Huntingtons disease affects the striatum ofthe brain as well as the hippocampus,

purkinje cells, and the cerebellum

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A.D. genetic disease on chromosome #4. Repeat in a CAG sequence on the DNA to occur

many more times than normal.

Normal >>> repeated 10 to 35 times. In H.D.>> 36-120 times. The repeated sequence is expanded as it is

passed through one generation to the next, Therefore, the disease becomes progressively

juvenile. If one parent has Huntingtons, the child has a

50% chance of having the disease as well

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5-10 people out of 100,000 have the disease.

After the first onset of symptoms a life spanoftwenty more years of life.

no cure and ultimately leads to death. Suicide is with 7.3% up to 27% attempting suicide.

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A genetic counselornumber of CAG repeats >> the likelihood & onset.

symptomsof Huntingtons is also effective formost patients.

Medical imaging of the brain >> which areas ofthe brain have atrophied.

MRI & (PET) >> striatalatrophy andhypometabolism predating any clinical featuresby up to 20 years

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Movement disorders

involuntary jerking, sustained contraction of muscles,

rigidity,

difficulty with speech, posture problems,

difficulty swallowing.

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Chorea is a rapid, involuntary, nonrepetitiveor arrhythmic movement involving the face,

trunk, and limbs. Abnormal eye movements can be a

prominent finding in HD. Optokinetic nystagmus is abnormal in very

early stages. In more advanced stages of HD,smooth pursuit, voluntary saccades, and

refixation are all impaired

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Cognitive disorders

difficulty with organization, emotional flexibility, lack of focus and reasonable

thinking

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non-Alzheimer dementias, "subcortical",referring to clinical models of cognition that

highlight frontostriatal pathways asfacilitators ofspeed and efficiency ofthought.

inefficient search of memory. memory loss is usually a late finding.

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When HD presents before age 20,

clinical features include :

1. myoclonus,

2. seizures,

3. behavioral problems,

4. parkinsonism.

Chorea is notably absent

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psychiatric disorders

sadness, unhappiness, social withdrawal, loss of interest, fatigue, feelings of guilt,

reduced appetite, reduced sex drive.

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evidence supporting the diagnosis

identifying an alternative diagnoses

1. ischemic infarction,2. pantothenate kinase-associated

neurodegeneration,

3. multiple sclerosis,4. neoplasm,

5. or Creutzfeldt-Jakob disease.

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Axial MRI images

through the lateral

ventriclesdemonstrate

caudate atrophy,

defined by the loss ofthe normal

protrusion of the

caudate head intothe lateral ventricle in

late-stage HD

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nonprogressive condition, onset in infancy or early childhood.

Occasionally, hypotonia and mild developmental delay can be seen.

It is not associated with dementia

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(CAG/CTG) in the junctophilin-3 gene (JPH3)on chromosome 16q24.3 [58].

African ancestry acanthocytosis

http://i/uptodate20.3/contents/mobipreview.htmhttp://i/uptodate20.3/contents/mobipreview.htm

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Japanese origin with

chorea, ataxia, and dementia.

A variant of DRPLA, known as the Haw-River syndrome, has

been reported in an African-American family.

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dystonia and basal ganglia iron depositionin children.

pantothenate kinase 2 (PANK2).

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adult-onset parkinsonism, chorea, and dystonia

mutations in the ferritin light chain gene.

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chorea and dementia. acanthocytes on peripheral blood smear.

neuropathy, seizures,

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neurologic dysfunction,cardiomyopathy, and diabetes

mellitus. ataxia, and dysarthria

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