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Huntington’s Disease

Title

Ñ    Huntington’s Disease

Definition

Ñ    Inherited disease

Characterised by:

Ñ    Progressive chorea and dementia

Aetiology

Ñ    Autosomal dominant inheritance

Ñ    Complete penetrance

Pathogenesis

Ñ    Progressive cerebral atrophy

Ñ    Marked loss of small neurones in the putamen and caudate nucleus

Ñ    Results in changes in neurotransmitters

Clinical Features

History

Ñ    Slowly progressive illness

Ñ    Insidious onset

Ñ    Usually between ages of 30-50 years

Examination

CNS

Ñ    Personality change progressing to dementia

Ñ    Choreiform movements

Ñ    Akinetic-rigid parkinsonian syndrome:

·          Westphal variant:

Commonest in children

Ñ    Epilepsy:

50 % of those with juvenile onset

2 % adult onset

Investigations

Fluids

Genetic Testing

Ñ    Mutation analysis:

Pre-symptomatic testing of family members

Imaging

CT Scan

Ñ    Atrophy of the caudate nucleus

Management

Control

Drugs

Control movements by using:

Ñ    Neuroleptics:

Sulpiride

Pimozide

Haloperidol

Ñ    Tetrabenazine

Support

Staffing

Ñ    Extensive nursing care

Ñ    Psychological support

Ñ    Nutritional support

Residence

Ñ    Residential care is needed in most cases

Prevention

Ñ    Genetic counselling

Prognosis

Ñ    Relentless course

Ñ    Death usually about 14 years from onset

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