Abstract
Huntington’s disease (HD) is a progressive neurodegenerative illness that affects 2–9/100.000 of the general population. The usual onset is at around age 35–40 years, but there were cases with onset above 55 years. The disease manifests clinically with many neurological and psychiatric symptoms, leading in advanced phases to dementia, but cognitive symptoms are frequently present much earlier in the disease course. HD is caused by an expanded polyglutamine stretch in the N-terminal part of a 350 kDa protein called huntingtin (HTT). This stretch is encoded by a trinucleotide CAG repetition in exon 1 of HTT. An expansion of greater than 36 repeats results in HD. The number of repeats is inversely correlated with the age of onset of motor symptoms, and disease onset during childhood or adolescence is associated with more than 60 CAG repeats. Mood disturbances may be one of the earliest symptoms of HD and may precede the onset of the motor pheno-type for almost 10 years. Neuropsychiatric symptoms may delay the appropriate diagnosis of HD and have major implications for disease management, prognosis and quality of life for patients and families. This case study is about a 58 years old female patient with late identification of Huntington’s disease after two admissions to psychiatric inpatient units, for the treatment of behavioral disturbances.
Highlights
Huntington’s disease (HD) is a progressive neurodegenerative illness, which was the first disorder that was diagnosed using only DNA markers [1]
HD is caused by an expansion of a trinucleotide (CAG) above 35 repeats that is inherited in an autosomal dominant manner, with 100 % penetrance when the CAG expansion exceeds 40 repeats and with incomplete penetrance between 36 and 39 repeats [2]
HD is caused by an expanded polyglutamine stretch in the N-terminal part of a 350 kDa protein called huntingtin (HTT)
Summary
Huntington’s disease (HD) is a progressive neurodegenerative illness, which was the first disorder that was diagnosed using only DNA markers [1]. The patient’s daughter was advised to perform the genetic test, but she did not follow this recommendation at the time Her family reported that 12 months ago the patient had a short episode of loss of consciousness, without seizures, from which she spontaneously recovered and which was not investigated at all. After the genetic test results had been obtained, the patient was re-evaluated by the neurologist, who established the definite diagnosis of Huntington’s disease, confirmed both on clinical and genetic grounds. She is currently treated with small doses of haloperidol (1 mg/ day) and clonazepam (2 mg/day) with good results regarding behavioral and movement symptoms
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