Clinical Features of Huntington Disease

The typical presentation of a patient with Huntington disease (HD) is gradual onset of chorea, dementia, and behavioral abnormalities in a young adult. HD is the most common inherited form of chorea and is transmitted in an autosomal dominant pattern caused by an expansion of unstable trinucleotide (CAG)/polyglutamine (polyG) repeats within the huntingtin gene on chromosome 4. Initially, the patient may develop facial twitching and grimacing, shoulder shrugging, finger twitching (piano-

playing movements), slight trunk twisting, or an extra step or kick when walking. The typical age of onset is in the late thirties and early forties.

In the juvenile form of HD, patients may present with rigidity, bradykinesia, dystonic postures, ataxia, seizures, pyramidal tract dysfunction, and mental retardation instead of chorea. This akinetic-rigid form (Westphal variant) is seen most often during the first or second decade of life, and is associated with high numbers of CAG triplet repeats. Gene amplification has been demonstrated during spermatogenesis via an unknown mechanism (Illarioshkin et al. 1994; Mahant et al. 2003). [Video Segments 11-12]

In approximately 85% of HD patients, regardless of age, chorea is the predominant movement disorder, and in the remaining 10 to 15% of patients, the motor disorder is characterized by bradykinesia, rigidity, and resting tremor. These Parkinsonian features are typically found in the juvenile variant and in the advanced stages of HD. In the terminal stage of HD, dysarthria, dysphagia, and respiratory difficulties become the most disabling and life-threatening problems. As the disease progresses, patients experience memory difficulties, inability to concentrate, confusion, and forget-fulness. Depression is common and suicide is a frequent cause of death. Other psychiatric disturbances include paranoia, hallucinations, and other delusional and psychotic symptoms.

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