Diagnostic Features

Progressive cognitive impairment is a core feature of Hungtington’s disease, with early

changes in executive function (i.e,processing speed, organization, and planing) rather than
learning and memory. Cognitive and associated behavioral changes often precede the
emergence of the typical motor abnormalities of bradykinesia (i.e.,slowing of voluntary
movement) and chorea (i.e, involuntary jerking movement). A diagnosis of definite
Hungtington’s disease is given in the presence of unequivocal, extrapyramidal motor
abnormalities in an individual with either a family history of Hungtington’s disease or genetic
testing showing a CAG trinucleotide repeat expansion in the HTT gene, located on
chromosome 4.
Associated Features Supporting Diagnosis
Depression, iiritability, anxiety, obsessive – compulsive, and apathy are frequently, and
psychosis more rarely, associated with Hungtington’s disease and often precede the onset of
motor symptoms.
Prevalance
Neurocognitive deficits are an eventual outcome of Huntington’s disease; the worldwide
prevelance is estimated to be 2.7 per 100,000. The prevalence of Hungtington’s disease in
North America, Europe, and Australia is 5.7 per 100,000, with a much lower prevalence of
0.40 per 100,000 in Asia.

Development and Course

The average age at diagnosis of Hungtington’s disease as approximately 40 years, altough
this varies widely. Age at onset is inversely correlated with CAG expansion lenght. Juvenile
Hungtington’s disease (onset before age 25) may present more commonly with bradykinesia,
dystonia, and rigidity than with the choreic movement characteristic of adult onset disorder.
The disease is gradually progressive, with median survival approximately 15 years after
motor symptom diagnosis.
Phenotypic expression of Hungtington’s disease varies by presence of motor ,
cognitive, and psychiatric symptoms. Psychiatric ad cognitive abnormalities can predate the
motor abnormality by at least 15 years. Initial symptoms requiring care often include
irritabity, anxiety , or depressed mood. Other behavioral disturbances may include
pronounced apathy, disinhibition, impulsivity, and impaired insight, with apathy often
becoming more progressive over time. Early movement symptoms may involve the
appearance of fidgetiness of extremities as well as mild apraxia (i.e., diffculty with
purposeful movements), partucurlary with fine motor task. As the disorder progresses, other
motor problems include impaired gait (ataxia) and postural instability. Motor impairment
eventually affects speech production (dysarthria) such that becomes very difficult to
understand which may result in significant distress resulting from the communication barrier
in the context of comparatively intact cognition. Advanced motor disease serverely affects
gait with progressive ataxia. Eventually individuals becomes nonambulatory. End-stage
motor disease impairs motor control of eating and swallowing, typically a major contributor
to the death of the individual from aspiration pneumonia.
Risk And Prognostic Factors
Genetic and physiological. The genetic basis of Hungtington’s disease is a fully penetrant
autosomal dominant expansion of the CAG trincleotide, often called a CAG repeat in the
hungtingtin gene. A repeat lenght of 36 or more is invariably associated with Hungtington’s
disease, with longer repeat lenghts asscosiated with Hungtington’s disease, with longer repeat
lenght associasted with early age at onset. A CAG repeat lenght of 36 or more is invariably
associated with Hungtington’s disease.