Huntington, disease

[MIM 143 100]

(Huntington's chorea)

The prevalence is estimated to be 1/16,000. Autosomal dominant transmission with full penetrance of a mutation of the IT15 gene (4q16.3) that codes for the huntingtin causing an expansion, greater than 36, of the CAG trinucleotides on the mRNA. The pathophysiology is unknown but leads to degeneration of some GABAergic neurons  of the caudate nucleus and the putamen, and sometimes of other brain structures. The result is a dysfunction of the glutaminergic and dopaminergic transmission pathways.

It usually manifests itself in adulthood:

    In adults:

-        onset between 30 and 50 years of age

-        chorea, involuntary movements

-        progressive ataxia and cerebellar signs: falls

-        dystonia

-        behavioral problems and cognitive decline

-        bulbar disturbances with dysphagia and undernutrition (required gastrostomy)

-        loss of sleep

-        frequent suicide

    Treatment: antipsychotics, antidepressants, benzodiazepines.

In less than 10% of these cases, there is a juvenile form (generally inherited from the father) that begins between 5 and 12 years of age. Although often regarded as a standalone clinical entity, its seems that it is  a 'rigid' variant of the disease.

First signs:

-        behavioral and learning disorders (academic difficulties)

-        stiff gait, with a hypo - or bradykinesia, resembling Parkinson's disease

-        dysarthria, dysphagia (risk of death by inhalation pneumonia)

-        late onset of choreic movements

-        seizures are more frequent (50%) than in the adult form (2%)

-        sometimes blepharospasm and abnormalities of eye movements

-        dementia and behavioral disorders get worse gradually.

     Treatment: risperidone, tiapride, minozide


Anesthetic implications:

behavioral disorders, convulsions; risk of inhalation pneumonia; interaction with symptomatic treatment: antipsychotics, antidepressants, benzodiazepines; avoid agents dopaminergic agents such as metoclopramide; reported enhanced sensitivity to pentothal and non-depolarisants curare have not been confirmed in the series of the Mayo Clinic; it is possible that patients with the disease have a higher frequency than the general population of a mutation of the Eu gene (allele Ef, see atypical anticholinesterases) responsible for resistance to fluorides; even in the homozygous form Ef - Ef, the extension of the duration of curarization to succinylcholine remains moderate, less than 1 hour usually.


References :

-        Gupta K, Leng CP.
Anaesthesia and juvenile Huntingtons disease.
Paediatr Anaesth 2000 ; 10 : 107-9.

-        Esen A, Karaaslan P, Akgun RC, Arslan G.
Successful spinal anesthesia in a patient with Huntingtons chorea.
Anesth Analg 2006; 103: 512-3.

-        Kivela JE, Sprung J, Southorn PA, Watson JC, Weingarten TN.
Anesthetic management of patients with Huntington disease.
Anesth Analg 2010; 110: 515-23

-        Kang J-M, Chung J-Y, Han JH, Kim Y-S, Lee BJ, Yi J-W.
Anesthetic management of a patient with Huntingtons chorea: a case report.
Korean J Anesthesiol 2013; 64: 262-4.


Updated: July 2017