Case presentation
The patient was a 75-year-old woman (II-6). On her first visit to our
hospital at the age of 75 years, Huntington’s disease was suspected
because she exhibited chorea in the neck and upper limbs and her family
history included Huntington’s disease. Therefore, with the patient’s
consent, genetic testing was performed; the results revealed a repeat
abnormality of the HTT gene; thus, she was diagnosed as
Huntington’s disease. The psychological test results were as follows: 25
points on the Mini-Mental State Examination and 10 points on the
Alzheimer’s Disease Assessment Scale-Cognitive Subscale. Tetrabenazine,
the only drug capable of preventing chorea movement, was then
administered, but nausea and fatigue necessitated the discontinuation of
oral administration. The patient’s older brother (II-5) who developed
the disease at the same age as her had chorea that rapidly progressed; 5
years later, he was almost immobile and bedridden (Fig1).
Magnetic resonance imaging of the head showed changes in the striatum.
In a cerebral blood flow test (IMP-SPECT), decreased blood flow was
observed in the precuneus (anterior wedge) and posterior cingulate gyrus
(Fig. 2). Usually, such areas of decreased blood flow are observed in
Alzheimer-type dementia patients. We suspected Alzheimer-type dementia
complications based on SPECT results of patient.
Initially, donepezil administration was considered, but because the
patient was irritable, a regimen of low-dose memantine (5 mg/day) was
started. Thereafter, swallowing and oral symptoms improved. Five years
since then, clinical symptoms have not worsened. Involuntary movements
also have not worsened substantially, and we have recorded the patient’s
gait videos at the age of 75 and 80 years (Video1A and 1B). The patient
did not show progression in gait speed and balance. Also after 5years,
IMP-SPECT revealed improved blood flow image in front-temporal lobe.
Additionally, information provided by family members and medical
examinations by physicians specializing in rehabilitation did not reveal
deterioration in the swallowing function or a decrease in the activities
of daily living.