Annals of Clinical Psychiatry

ISSN: 1040-1237 (Print) 1547-3325 (Online) Journal homepage: https://www.tandfonline.com/loi/iacp20

Psychiatric and Neuropsychological Abnormalities

in Huntington's Disease: A Case Study

Subramoniam Madhusoodanan, Ronald Brenner, Despina Moise, Jagadeesh

Sindagi & Israel Brafman

To cite this article: Subramoniam Madhusoodanan, Ronald Brenner, Despina Moise, Jagadeesh
Sindagi & Israel Brafman (1998) Psychiatric and Neuropsychological Abnormalities in Huntington's
Disease: A Case Study, Annals of Clinical Psychiatry, 10:3, 117-120

To link to this article: https://doi.org/10.3109/10401239809148945

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Annals of Clinical Psychiatry, Vol. 10, No. 3, 1998

Psychiatric and Neuropsychological Abnormalities in

Huntington’s Disease: A Case Study
Subramoniam Madhusoodanan, M.D.,19 Ronald Brenner, M.D.,’ Despina Moise, M.D.?
Jagadeesh Sindagi, M.D.,’ and Israel Brafman, M.D.’

The authors describe an atypical presentation of Huntington’s disease in a 55-year-old

woman who manifested essentially psychotic and cognitive symptoms. A positive family his-
tory of Huntington’s disease and DNA analysis helped to establish the diagnosis. The pa-
tient’s psychotic symptoms improved with risperidone. The psychiatric and cognitive
symptoms of Huntington’s disease are reviewed.
~~ ~
~~ ~~

KEY WORDS: Huntington’s disease; psychiatric cognitive symptoms; risperidone.

INTRODUCTION United States because of the prominent sudden jerky

The diagnosis of Huntington’s disease has long
been established as requiring choreiform movements,
but there has been some suggestion that cognitive
and psychiatric abnormalities may appear before the
movement disorder. For instance, Jensen et al. (1)
suggested that severe psychiatric disorders in persons
at risk for Huntington’s disease are probably etiologi-
cally related to the disease process. Shiwach and
Norbury (2), however, reported that asymptomatic
gene carriers of Huntington’s disease do not have a
greater incidence of psychiatric disorders than
nongene carriers. The issue of when to diagnose
Huntington’s disease in DNA-confirmed gene carri-
ers takes on paramount importance when therapies
to delay age of onset are considered. Although there
is no treatment for Huntington’s disease or method
to delay age at onset, several research groups are
currently exploring these possibilities.
Huntington’s disease is an autosomal dominant
disorder with a variable age at onset (3). The disor-
der was previously called Huntington’s chorea in the
~~ ~
movements of the limbs, face, o r trunk (3). We de-
scribe the case of a 55-year-old woman who pre-
sented with psychotic and cognitive symptoms, but no
significant abnormal movements, and in whom Hunt-
ington’s disease was diagnosed based on a positive
family history and DNA analysis.
CASE REPORT
In July 1997, a 55-year-old white divorced
woman was admitted to our hospital from a nursing
home because she had auditory hallucinations, delu-
sions that a man was following her with a machine,
and was disruptive.
About 4 months earlier the patient had been
placed in the nursing home from a psychiatric unit
of a tertiary care hospital with a diagnosis of organic
brain syndrome, personality disorder, and nonspeci-
fied psychosis. She had been homeless for some time
and then lived in a women’s shelter for 5 years before

‘St. John’s Episcopal Hospital, South Shore, Far Rockaway, New
York.
’State University of New York, Health Science Center at Brook-
lyn, New York.
3To whom correspondence should be addressed at St. John’s Epis-
copal Hospital, 327 Beach 19th Street, Far Rockaway, New York
11691.
entering the nursing home. She used to wander out
of the shelter and get lost, which led to her first psy-
chiatric hospitalization. Adequate information about
the patient’s history and that of her family could not
be obtained. But evidently she had worked as a sec-
retary in a doctor’s office and there were allegations

117
1040-1237/98/09M)-0117$15.M)/1 0 1998 American Academy of Clinical Psychiatrists
118
about child abuse which led to her divorce. She has
three children who do not keep in touch with her.
At the time of her placement in the nursing
home, she was receiving 2 mg of haloperidol and 1
mg of benztropine mesylate once daily by mouth and
showed no evidence of psychotic symptoms. She was
calm, with no suicidal thoughts, but her affect was
inappropriate. She showed some memory impair-
ment and was oriented to time and person but not
to place. She had mild rigidity of extremities and buc-
colingual dyskinetic movements. A diagnosis of pre-
senile-onset dementia with extrapyramidal side
effects and tardive dyskinesia was made. Haloperidol
and benztropine mesylate were discontinued. About
2 months later, she started having auditory halluci-
nations and delusions that somebody was following
her with a radio. She was started on risperidone (0.5
mg twice daily orally), but about 3 weeks later was
admitted to the psychiatric unit because of delusions
and disruptive behavior.
On admission to the hospital, the patient was
anxious, seclusive, suspicious, and uncooperative and
reported auditory hallucinations and paranoid delu-
sions. She appeared older than her stated age and
showed evidence of buccal dyskinetic movements.
Her speech was within normal limits except for non-
spontaneity. She was oriented to time and person,
but her memory was poor for recent and remote
events when assessed with a free retrieval paradigm.
Her calculation was poor. She expressed no suicidal
or homicidal thoughts.
Physical and neurologic examinations revealed
no significant abnormalities except for buccal dyski-
netic movements. Results of initial laboratory tests,
which included a complete blood count, measures of
serum chemistry, vitamin B12, and folate levels, thy-
roid function tests, a serological test for syphilis, elec-
trocardiogram, urinalysis, and chest roentgenogram,
were within normal limits. A computerized tomogra-
phy of the head revealed moderate cerebral cortical
atrophy, but no caudate nucleus atrophy, according
to the radiologist. A neurologist’s examination found
no abnormal movements suggestive of Huntington’s
disease.
Our attempts to reach the patient’s family had
been unsuccessful. Then, however, one of her daugh-
ters, who was living out of state, called to ask that
her mother be tested for Huntington’s disease. She
reported that the patient’s mother had died of Hunt-
ington’s disease in a psychiatric hospital and that two
of her siblings had been diagnosed to have Hunt-
ington’s disease. No further details were available.
Madhusoodanan, Brenner, Moise, Sindagi, and Brafman
We were unable to contact this daughter after this
telephone call. A DNA test for Huntington’s disease
by the PCR method was ordered.
DNA Results
The DNA analysis identified an abnormal IT15
allele with 44 CAG repeats (normal is less than 31
CAG repeats) and a normal IT15 allele with 16 CAG
repeats. This was interpreted as indicating that the
patient possesses the Huntington’s disease CAG mu-
tation and is thus affected with or predisposed to de-
veloping the clinical symptoms associated with
Huntington’s disease.
Psychological Tests
Psychological tests included the Wechsler Adult
Intelligence Scale-Revised (WAIS-R) and Wechsler
Memory Scale-Revised (WMS-R), the Bender Vis-
ual-Motor Gestalt Test, the California Verbal Learn-
ing Test, the Verbal Fluency Test, the Wisconsin Card
Sorting Test, and the standardized Mini-Mental State
Examination.
The patient’s full-scale IQ score of 65 was in the
intellectually deficient range and at the first percen-
tile (Table 1). Her verbal IQ score of 70 was in the
borderline range of intellectual abilities and at the
second percentile. The performance scale IQ of 62
was in the intellectually deficient range and at the
first percentile. No clinically significant discrepancies
in verbal versus performance abilities were noted.
Analysis of factors, or clusters of subtests that meas-
ure common cognitive skills, demonstrated variable
performance but all were well below average. Spe-
cifically, the patient’s ability to organize and process
within a visual mode was significantly lower than her
abilities to concentrate, attend, and verbally compre-
hend. This observation was consistent with the re-
ported findings of deficits in the visuospatial skills in
Huntington’s disease patients (3).
The patient’s WMS-R indexes were all well
within the deficient range (Table 1). The general
memory index was significantly lower than would be
expected from the patient’s WAIS-R full scale score.
Because all index scores were so low, differences be-
tween indexes could not be calculated.
The California Verbal Learning Test was admin-
istered to compare recall versus recognition memory.
When presented with a list of 16 shopping items, the
patient could recall a mean of only 2.6 words on five
Psychiatric Neuropsychological Abnormalities Huntington’s Disease 119

immediate free recall trials of the same shopping list. lkeatment

Furthermore, she was unable to recall any words in
short-delay or long-delay free or cued recall. She
failed to recognize any of the words on long-delay
recognition. Because of her poor recall performance,
no conclusions from this test could be made about
recall versus recognition memory.
Retrieval abilities were also assessed with the
tests of verbal fluency. The patient generated seven
common objects and was unable to generate any
words beginning with specific letters. Both semantic
and symbolic word retrieval appeared to be compro-
mised, with semantic retrieval being more intact.
Deficits in retrieval of information have been re-
ported in patients with Huntington’s disease (3).
Table 1 shows a standard score of less than 50
on the Bender Visual-Motor Gestalt Test. Such a
score is suggestive of significant visual-motor deficits
and is consistent with visuospatial skills in Hunt-
ington’s disease (3).
On the Wisconsin Card Sorting Test, the patient
was only able to focus on one dimension of the
stimulus cards throughout. The Mini-Mental State
Examination score of 21 of 30 points is suggestive of
dementia.
Diagnosis
In view of the strong family history of Hunt-
ington’s disease, clinical presentation of psychotic
symptoms, cognitive deficits, personality problems,
gradual deterioration of level of functioning in a mid-
dle-aged person, and positive results of the DNA
analysis, we concluded that this patient had Hunt-
ington’s disease.
The dose of risperidone was gradually increased
to 2 mg twice daily. The patient was given 100 mg
of amantadine twice daily in view of blepharospasms;
these cleared up in 1week. The patient also received
individual, group, activity, and milieu therapy and
was discharged after 2 weeks of hospitalization. Dur-
ing the second week, some choreiform movements
of the trunk and occasional urinary incontinence
were noted. The Extrapyramidal Symptoms Rating
Scale (4) revealed mild dyskinesia and borderline
parkinsonism (in the clinical global impression of se-
verity). At the time of discharge, her personal hy-
giene had improved, her hallucinations had become
much less frequent, and she was no longer delu-
sional, but she did have occasional choreiform move-
ments of the trunk.
DISCUSSION AND CONCLUSION
This case study illustrates the significance of the
psychiatric and cognitive symptoms in the initial
presentation of Huntington’s disease. Lack of signifi-
cant choreiform movements by itself should not pre-
clude this diagnosis. Recently, Lovestone et al. ( 5 )
described an unusual family with Huntington’s dis-
ease in which all four affected members presented
first with a severe psychiatric syndrome (schizo-
phreniform in three of the four).
Psychiatric manifestations of Huntington’s dis-
ease include apathy, irritability, dysphoria, anxiety,
mood disorders, intermittent explosive disorder, schi-
zophreniform disorder, and atypical psychosis (3). In

Table 1. Results of Psychological Tests

Test Scale/factor Score Percentile

WAIS-R Full scale IQ 65 1st

Verbal scale IQ 70 2nd
Performance scale IQ 62 1st
Verbal comprehension 69 2nd
Perceptual organization 51 0.05
Freedom from distractibility 68 2nd
WMS-R General memory 4 0 C0.05
Verbal memory <50 <0.05
Visual memory <50 c0.05
Attention/concentration 4 0 <0.05
Delayed recall 4 0 <0.05
Bender Standard score <50 <0.05
120
a retrospective study of 110 patients with Hunt-
ington’s disease in 30 families, Shiwach (6) reported
a minimal lifetime prevalence of depression in 39%,
symptomatic schizophrenia in 9%, and significant
personality change in 72% of the sample. In a study
of 30 patients by Caine and Shoulson (7), using
standardized methods, dysthymic or major depres-
sion was diagnosed in 10 patients and schizophrenia
or atypical psychosis in five. Folstein and co-workers’
studies (8,9) of 186 patients with Huntington’s dis-
ease revealed affective disorder in 40%, intermittent
explosive disorder in 31%, and schizophrenia in 6%
of the sample. Hanus and Panousek (10) report that,
in the early stages of the illness, the patient is often
subjected to social rejection and the victim of crimi-
nal acts. Familial aggregation for affective disorders
and Huntington’s disease has been identified in fami-
lies by a proband with both disorders (8).
Cognitive abnormalities in patients with Hunt-
ington’s disease may include deficits in declarative
memory (with greater impairment in retrieval of in-
formation than in recognition), procedural memory,
verbal fluency, visuospatial skills, sustained concen-
tration, and executive functions, but relative preser-
vation of language functions (3). The pattern of
memory deficits changes in the course of the disease.
We conclude that a spectrum of neuropsychiatric
manifestations may be seen in Huntington’s disease.
The typical choreiform movements may not neces-
sarily manifest in the early stages of the illness and
thus many of these patients first come to the atten-
tion of psychiatrists because of behavioral and cog-
nitive symptoms. The patient’s family history and
Madhusoodanan, Brenner, Moise, Sindagi, and Brafman
DNA analysis will be crucial in confirming the diag-
nosis. Longitudinal follow-up will further clarify the
diagnosis, response to treatment, and progression of
the illness.
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