Early Psychotic Symptoms as Indicators of Huntington’s Disease Onset

Abstract

Introduction: Huntington’s disease is a genetic disorder, also known as an autosomal dominant neurodegenerative disease, that has typical manifestations such as motor disturbances, cognitive decline, and psychiatric symptoms. Neurologists initially classified it as a movement disorder because the diagnosis is primarily based on the presence of extrapyramidal motor symptoms. However, after careful examination of several cases, it was revealed that chorea was only one type of motor dysfunction and that tics and myoclonus were also present. Regarding psychiatric symptoms, studies have shown that patients presenting psychosis-related symptoms have a worse evolution with poor prognosis, and it was concluded that they present distinct clinical, imaging, and biological characteristics. Case presentation: The present case report aims to describe the onset of a particular case of Huntington’s disease, taking into consideration the fact that early psychotic symptoms, very similar to those identified in schizophrenia, could represent indicators of Huntington’s disease onset. An interesting aspect of this case was that our patient had no family history of neurological conditions but had a clinical picture characterized by delusions and hallucinations. These symptoms were considered criteria for schizophrenia. Moreover, chorea motor movements appeared several years after the onset of psychosis, determining the need for the diagnosis to be changed from schizophrenia to Huntington’s disease. Conclusion: We need to point out that psychiatric symptoms could represent the only initial visible change in the clinical picture, being also considered as indicators of Huntington’s disease onset. These features could help patients be easily and faster identified, allowing for proper medical interventions to be provided.

1. Introduction

Huntington’s disease is a genetic, autosomal dominant neurodegenerative disease with typical manifestations in three main domains: motor disturbances, cognitive decline, and psychiatric symptoms [1].

Studies show an average onset at the age of 42 years; others estimate the range to be between 30 and 50 years, but less than 10% of patients have an established diagnosis of Huntington’s disease before the age of 20 years [2]. This form of early development is considered the juvenile or Westphal variant, characterized by encephalopathy and severe cognitive impairment, in association with episodic seizures, behavioral issues, and, essentially, rigid–akinetic syndrome [3]. Generally speaking, the illness advances gradually; the patient may live for 15 to 20 years before passing away, although there may be a significant functional deterioration and an early death [4]. Huntington’s disease is caused by the unstable expansion of the cytosine–adenine–guanine (CAG) trinucleotide identified on the short arm of chromosome 4, as it repeats in the first exon in the Huntingtin gene [5]. The disorder can be considered relatively rare and variable, depending on ethnicity and geographic area, but with an estimated prevalence of 1 in 10,000 people or 5 in 100,000 people, and rising to 14 in 100,000 in countries like the United Kingdom or Canada. Regretfully, there is no known cure for the disorder or effective preventive measures [6].

Traditionally, neurologists classified it as a movement disorder because the diagnosis is mainly based on the presence of extrapyramidal motor symptoms—for example, chorea, dystonia, incoordination, bradykinesia, and rigidity. Huntington’s chorea was the original term for it, but after a careful examination of several cases revealed that chorea was only one type of motor dysfunction and that tics and myoclonus were also present, the term was changed to Huntington’s disease [7]. Also, the motor picture over time would change to variable grades of hypokinesia, dystonia, and progression of the disease to rigidity and Parkinsonism. Along with the motor symptoms, cognitive changes have been identified in domains such as executive functions, attention, and learning decline, over time, leading to dementia [8]. Recent studies have shown that cognitive impairment is a core aspect that can exist for years before a diagnosis is made [9]. To complete the triad of symptoms and signs of Huntington’s disease, we need to mention the psychiatric complaints that include depression, aggression, apathy, irritability, obsessive–compulsive behaviors, perseverations, and, although not as frequently as those presented before, psychotic features [10]. Certain studies report that psychosis occurs sporadically, ranging from 3 to 11%, and that it involves delusions and/or hallucinations [11]. Additionally, it is noted that these specific symptoms typically manifest after the onset of full clinical motor disturbances, and, in some cases, they can predate the motor or cognitive changes [12]. Some experts contend that there is no significant correlation between psychiatric disorders and indicators of Huntington’s disease progression. In contrast, others consider that mental symptoms are widespread, can indicate elevated distress, and can appear at any point in the disorder’s development [13,14,15].

The present case report aims to describe a particular case of Huntington’s disease onset, taking into consideration the fact that early psychotic symptoms, very similar to those identified in schizophrenia, could represent indicators of Huntington’s disease onset. An interesting aspect of this case is that our patient had no family history of neurological conditions but had a clinical picture characterized by delusions and hallucinations. These symptoms were criteria for schizophrenia. Moreover, chorea motor movements appeared several years after the onset of psychosis, resulting in the need for the diagnosis to be changed from schizophrenia to Huntington’s disease.

The patient’s legal tutor gave written consent at the time of admission and agreed to the publication of her case.

2. Case Report

We present the case of a 51-year-old female patient, from the urban environment, who was hospitalized for 12 days in a Psychiatric Emergency Hospital. Her general information is presented in

Table 1. General information about the patient.

Categories	Details
Age	51 years
Gender	Female
Environment of origin	Urban
Level of education	10 classes graduated
Legal guardianship	Husband (legal guardian)

. She was brought in from home by ambulance, at her husband’s request, for the following symptoms: psychomotor agitation, food refusal since the previous week in association with mutism established four months prior to admission, and choreiform movements.

Heteroamnestically, her husband stated: “She became very agitated, she refused to be fed, and she was not able to speak with me in the last four months. Now, she even refuses to be bathed, and she becomes aggressive, hitting me when I try to help her”.

From the family medical history, we found out that both her parents were deceased (her mother had dermatological oncological pathology, and her father had a lung neoplasm and acute myocardial infarction). The patient had one sister, and we discovered that her sister had no pathologies. Her son was clinically healthy and refused to be tested for Huntington’s disease. The family could not provide information about the age or causes of death for her uncles, aunts, or grandparents (details about the family are presented in

Table 2. Patient’s family history.

Categories	Details
Mother	Deceased—dermatological oncology condition
Father	Deceased—lung neoplasm, acute myocardial infarction
Sister	No pathologies
Son	Clinically healthy, refused genetic testing for Huntington’s disease
Family neurological history	No documented neurological diseases

). We did not find any documented neurological diseases in her family.

As for the patient’s past medical history, we noted menarche at 13 years, two pregnancies, one birth, and one abortion upon request (

Table 3. Personal medical history of the patient.

Categories	Details
Menarche	At 13 years old
Pregnancies	2 pregnancies: 1 birth, 1 abortion on demand
Surgeries	Appendectomy (14 years old), hysterectomy (2013, for uterine leiomyoma)
Smoked	2 packs/day, quit 8 years ago
Alcohol/Drugs	Never used

). Her surgical history included appendectomy (at the age of fourteen) and hysterectomy for uterine leiomyoma (2013).

In terms of life and work history, we found out that the patient graduated from ten classes and used to work as a waiter. However, she is currently retired due to Huntington’s disease and is legally represented by her husband, who is her tutor.

She used to smoke two packs of cigarettes per day and stopped 8 years ago. The family denied alcohol or drug use at any point in her life.

At admission, her husband stated that for the last 2 weeks, due to swallowing difficulties, she was not compliant with treatment. According to her family report, the first psychiatric evaluation was in 2007 in a different clinical setting, when she was misdiagnosed with paranoid schizophrenia based on a clinical picture characterized by paranoid delusions of interpretation, persecution, and pursuit, associated with intense fear within the delusional context. After this first psychiatric evaluation, the patient was nonadherent to treatment, nor did she check back with her psychiatrist until 2014, when she came voluntarily to be admitted to our Psychiatric ward. The diagnosis for this admission was maintained as paranoid schizophrenia because she described feelings of sadness, lack of appetite, a significant decrease in daily performance, social withdrawal, and insomnia. She also had paranoid delusions, accompanied by fear, and stated, “My husband borrowed money from loan sharks seven years ago, and since then, we have not gotten along well. He guaranteed the house with the money lenders, and now they are looking for me and threatening to kill me, and I am frightened”.

At that time, the patient’s son denied the story of the money loan described by his mother. “Mother’s condition deteriorated three years ago,” he claimed. “She started to give up cooking, cleaning the house, and maintaining her hygiene. She gets upset easily and clashes with everyone, especially with my father. In the past few months, she seems to have forgotten how to speak, she has difficulties in pronouncing words, and forgets if she has to go somewhere,” the patient’s son added. According to him, the patient has lost about 10 kg of weight: “She says that the food is poisoned and refuses to eat.”

During admission in 2014, the patient had a neurological consultation that did not reveal any pathological changes, and a diagnosis of persistent headache syndrome was established.

In the next four years, she was seen by a psychiatrist in the Mental Health Center of our town, who prescribed her treatment for paranoid schizophrenia.

In 2018, the diagnosis of Huntington’s disease was made, as the patient developed choreiform movements, and she underwent genetic testing at the recommendation of her treating psychiatrist. The Polymerase Chain Reaction (PCR) results showed 44 repetitions of the cytosine–adenine–guanine (CAG) trinucleotide on the first allele for the Huntington gene and 19 repetitions of CAG on the second one.

In the same year of 2018, after the genetic confirmation of Huntington’s disease, the patient had three additional brief admissions to our Emergency Psychiatric ward, being discharged each time at the request of her spouse. The symptoms that led to those admissions were complex auditory hallucinations, olfactory hallucinations, delusional ideas of being chased, persecution and jealousy, psychomotor agitation, and physical aggression towards the husband. He stated at that time, “She hears people in the house and says they are following her and want to hurt her. She accuses me of stealing her clothes and inviting women into our home. She throws household things at me and claims that I use her perfumes because she can smell them throughout the house”. New symptoms progressively occurred during the year 2018 when she was also diagnosed with dementia in Huntington’s disease based on cognitive impairments such as hypomnesia and symptoms that the spouse described: “She forgets where she puts things, she no longer knows what she has to do, she can no longer handle things.” Additionally, a cranial MRI was performed; we have only the interpretation of it, which is described in multiplanar sections. Double-weighted imaging highlights the two cerebral hemispheres as symmetrical, with normal circulation centered on the interhemispheric fissure. There were diffuse cortico-subcortical atrophic changes, more evident in the frontal lobes. Other brain structures were within normal limits.

After the admissions in 2018, she went back to her psychiatrist from the Mental Health Center, who prescribed the treatment, but she was nonadherent, and her state only worsened (

Table 4. Psychiatric and neurological history of the patient.

Year	Event/Diagnosis
2007	First psychiatric diagnosis: Paranoid schizophrenia that was later deemed to be wrong
2014	Readmission in the psychiatric hospital for negative symptoms, paranoid delusions Neurological consultation: no pathological changes, chronic headache
2018	Genetic diagnosis confirmed: Huntington’s disease (CAG: 44/19) due to the development of choreiform movements Additional diagnosis: Huntington’s disease dementia MMSE = 11/30 → severe cognitive deficit GAF = 20 → severe impairment of functioning
2022	Readmission in the psychiatric hospital for mutism, food refusal, chorea

). This situation lasted until 2022, when she was again admitted to the emergency psychiatric ward, at the request of her husband, for psychomotor agitation, food refusal, mutism, and choreiform movements. During this admission, her husband stated, “If I think about it, she has said since 2008 that she lacks foot stability when I asked her why she was not walking normally. Also, she used to drop objects from her hand.”

The physical examination indicated normal ranges except in the case of the Body Mass Index (BMI), which was 14.69 kg per square meters (kg/m²), resulting in her being classified as underweight, with pale integuments, multiple dehydrated ecchymoses at the buttock level, an erythematous lesion with a diameter of approximately 10 cm at the left groin level, erosions at the level of the lower phalanges, and a hypotonic and hyperkinetic muscular system.

The mental status examination revealed a disheveled appearance and poor hygiene; her motor activity was broad, with continuous choreiform movements that diminished during sleep; and her speech was impoverished, with severe dysarthria and episodes of soliloquy, and severe hypoprosexia, with possible auditory hallucinations accompanied by paranoid delusions of poisoning. Her behavior was uncooperative, agitated, and aggressive towards her spouse and medical nurses. Her capacity for self-care and self-management was absent, and daily productivity was abolished. Her mood was characterized by irritability and anxiety, and alimentary and sexual instincts were diminished, with an inverted nictemeral rhythm. She was disoriented in time and space, and her insight and judgment were poor.

The most recent psychological examination was on 5 December 2018. It could not be repeated due to significant speech difficulties and a lack of involvement.

The Minimum Mental State Examination (MMSE) indicated a significant cognitive deficit at the cognitive level, MMSE = 11/30, with severe temporal disorientation, severe hypomnesia, dyscalculia, apraxia, and difficulties performing tasks. Cooperation was difficult, and there was verbal negativism, with severe impairment in psychological, social, and professional functioning, and with a Global Assessment of Functioning scale (GAF) = 20, cognitive decline, communication impairment, inability to cope in society, loss of self-management skills, and inadequate capacity for self-care. She was categorized as a dependent individual who needed social support to survive. Her mental state consciousness was absent.

Blood samples were collected during admission to monitor the evolution of biological parameters, and the following changes were identified: increased uric acid = 9.19 milligrams per deciliter (mg/dL); increased creatine kinase (CK) = 785 units per liter (U/L); increased sodium of 148 millimole per liter (mmol/L); increased lactate dehydrogenase (LDH) = 456 U/L, increased C-Reactive protein = 2.04 mg/dL; D-Dimers = 501 nanograms per milliliter (ng/mL); increased leukocytes = 13.57 109 per liter (L); and increased neutrophils = 87.2%, 9.05 109/L. During admission, all changes improved under treatment and remained within normal limits.

Neurological reevaluation was performed, maintaining the diagnosis of Huntington’s disease and dementia in Huntington’s disease, with a decision to initiate therapy with tetrabenazine 25 mg, with half of it taken in the evening. The dose was gradually increased every 3–4 days until it reached the maximum dose of 200 mg per day. To avoid QT interval prolongation, EKGs were performed regularly.

2.1. Diagnosis According to the Guidelines (ICD 10, DSM 5)

The diagnoses according to the International Statistical Classification of Diseases and Related Health Problems 10th Revision (ICD 10) were the following:

AXIS I: dementia on Huntington’s disease; organic delusional disorder; Huntington’s disease; hypokalemia; decubitus ulcers; chronic constipation.

Axis II: World Health Organization Disability Assessment Schedule (WHODAS) scale functional level > 90. In terms of comprehension and communication, the patient exhibited difficulties with acute attention, a loss of ability to acquire new tasks, and an inability to maintain a discussion. In addition, she was immobilized in bed and could not move. Her autonomy was compromised, and in terms of interpersonal interactions, she spent most of her time at home with her spouse.

Axis III: absolute reliance on another individual; needing institutionalization or ongoing care from someone else.

To confirm the diagnosis of dementia in Huntington’s disease, dementia is defined as cognitive decline (a slowdown in the flow of ideas), memory decline (impairment of the ability to record, store, and reproduce new information), and thinking impairment to the point that it interferes with personal activities of daily living. The patient experienced all these symptoms. Additionally, the patient struggled with attentional focus and maintenance. These symptoms had been reported for over six months, with an initial onset in 2018. Also, dementia and choreiform movement disorders were associated, and involuntary choreiform movements were present in the upper limbs and head. Early gait abnormalities were reported as heteroanamnestic, whereas memory deficits emerged later in 2018. The onset of the disease manifested through paranoid delusions.

As for the organic delusional disorder, the presence of paranoid delusions of poisoning can be mentioned, which may have been accompanied by auditory hallucinations. Genetic testing also revealed evidence of a brain illness, back in 2018, linking this pathology to Huntington’s disease.

The diagnoses according to the Diagnostic and Statistical Manual of Mental Disorders, fifth edition (DSM 5) were the following:

Major neurocognitive disorder secondary to Huntington’s disease. Psychotic disorder secondary to Huntington’s disease.

To confirm the major neurocognitive disorder secondary to Huntington’s disease, Huntington’s disease was indeed present and was demonstrated clinically through genetic testing. The criteria for a significant neurocognitive disorder were also met, namely, cognitive decline in multiple cognitive domains (attention, executive function, learning and memory, language, perceptual–motor function, and social cognition), and these cognitive dysfunctions impaired independence and daily functioning, did not occur in an episode of delirium, and were not better explained by another mental disorder. As for the onset, it was insidious, and the evolution was progressive.

As for the psychotic disorder secondary to Huntington’s disease diagnosis, we had the following symptoms: the patient displayed evident delusions, with these being the most common symptom, as well as auditory hallucinations. There was evidence from genetic tests that this psychotic condition was a direct pathophysiological consequence of Huntington’s disease. Moreover, the disturbance was not explained by another mental condition, occurred outside of delirium, and caused clinically substantial discomfort and dysfunction in social, occupational, and other domains of functioning.

2.2. Treatment

There is currently no cure for Huntington’s disease. An integrated approach is required, including pharmacological treatment, psychotherapy, and social therapy.

The first stage of treatment aimed to calm the patient and reduce delusional thoughts and hallucinations. We monitored blood pressure, pulse, and potential adverse effects. The patient displayed psychomotor agitation and was physically aggressive towards the medical staff during her hospitalization, necessitating mechanical restraint multiple times. Additionally, the patient refused to eat upon arrival, and swallowing difficulties were identified and partially remedied. Later, she became cooperative and was given pureed food via a syringe. If she continued to refuse food, a nasogastric tube would have been the solution. The patient was mobilized every day. During hospitalization, we corrected all abnormal blood levels.

The patient was treated with Haloperidol 5 mg/mL, 2 vials of 1 mL each, administered daily, one in the morning and one in the afternoon, with subsequent discontinuation. This was chosen as an effective treatment for the psychotic symptoms, also because of the possibility of giving it intramuscularly, taking into consideration the adverse effects of inducing rigidity and hypokinesia as Parkinsonism effects that, in our case, would be beneficial for the patient. During previous admissions, the patient was treated with an atypical antipsychotic, Olanzapine, which was continued at a lower dosage of 10 mg in the evening. Also, a switch from Haloperidol to Risperidone was later made after 3 days, administered as an oral solution of 1 mg/mL, 2 mL in the morning and 2 mL in the evening. This antipsychotic was chosen due to its pharmaceutical form, oral administration, for greater adherence (the patient had significant swallowing difficulties), up to a dose of 4 mg. Benzodiazepines (10 mg of diazepam daily, tapered until cessation), were prescribed for psychomotor agitation. Also, the patient was given 100 milligrams of Tiapride in two tablets per day, one in the morning and one in the evening, in the first 3 days due to severe psychomotor agitation. Tiapride was chosen as an effective treatment with a sedative effect, as it is a sedative neuroleptic with which we have much experience (

Table 5. Pharmacological treatment that was given to the patient.

Medication	Dosage/Administration	Purpose
Haloperidol	5 mg/mL, 2 vials (1 mL each) daily, one in the morning, one in the afternoon for the first 3 days	Treating psychotic symptoms, inducing Parkinsonism-like effects (beneficial for rigidity and hypokinesia)
Olanzapine	10 mg in the evening	Previously initiated and continued for psychosis
Risperidone	Oral solution 1 mg/mL, 2 mL in the morning and 2 mL in the evening	Antipsychotic, switched from Haloperidol after 3 days for better adherence
Benzodiazepines (Diazepam)	10 mg daily, tapered to cessation	Treating psychomotor agitation in the first days
Tiapride	100 mg (2 tablets per day, one in the morning and one in the evening)	Sedative neuroleptic, used for severe psychomotor agitation in the first few days
Tetrabenazine	Starting with 25 mg/day, gradually increasing to max. 200 mg/day	Currently no cure for Huntington’s disease, continued for the movement’s symptoms

).

The maintenance phase aimed to reduce the intensity of choreiform movements and avoid relapse while continuing antipsychotic medication and tetrabenazine. It was recommended for the patient to be monitored on a regular schedule by psychiatry and neurology clinics to prevent relapse, through periodical reevaluation of symptoms and therapeutic conduct.

Supportive psychotherapy for the family was given as the patient’s husband had been caring for her since 2007, and, following discharge, he institutionalized her in a palliative care facility.

We suggested therapy for the patient’s son because her diagnosis and the likelihood of developing the condition himself would have an impact on him. Being a monogenic disease with autosomal dominant transmission (which represents a 50% risk of disease transmission), the patient’s son was informed of the possibility of undergoing genetic testing, but only after assessing the potential implications of the test during a genetic counseling session. He declined to take the examination.

Music therapy is a non-pharmacological intervention that could have improved the patient’s quality of life by reducing behavioral issues and enhancing her communication skills and cognitive function. It could have been performed via both individual and group music therapy, along with her family. Unfortunately, the patient did not participate in any form of music therapy.

Sociotherapy at this point was impossible for many reasons. The patient was in bed; she could not stand up or walk. She had episodes of psychomotor agitation, with moments of aggressive behavior towards her husband. Moreover, the most important aspect was that she had been unable to speak anymore. Also, in the early stages of the disease, she did not follow sociotherapy. Even then, her compliance with this form of therapy was questionable because of the presence of auditory hallucinations, persecutory delusions, and aggressive behavior.

3. Discussion

As presented, our patient had a unique clinical picture depicting the beginning of Huntington’s disease with a psychotic episode, which had a stressful influence on both the patient and her family caregivers regarding the misdiagnosis of schizophrenia instead of a neuropsychiatric condition. For more than 10 years, she was considered to have a diagnosis of schizophrenia, regardless of multiple psychiatric and neurological evaluations; the clinical picture at that time did not consist of neurological symptoms that would raise the question of Huntington’s disease. She was given treatment that was specific to schizophrenia. During this time, there were long periods, as the family pointed out, when she was not compliant with the treatment. However, on the other hand, there was a long period of almost 4 years, starting in 2014, when she decided to take the treatment even though the symptoms were still present without any favorable evolution. Regarding this aspect, the following key question needs to be considered: was the patient a victim of medical malpractice? Answering this question would be difficult because of the absence of characteristic neurological symptoms of Huntington’s disease at that time or maybe the family members were not asked about all the relevant details or they did not notice soft motor signs that later were reported as foot instability and that objects were inexplicably dropped. Moreover, we need to mention that the awareness of Huntington’s disease and even the possibility of genetic testing in the past was much lower than it is nowadays in our country. To the best of our knowledge, since 2018, a small group of doctors from Romania have been working to gather information and establish a National Registry of all patients with Huntington’s disease. The program is still ongoing, with new families being identified, particularly those from rural areas where accessing medical services is more challenging. Taking all these aspects into consideration, we cannot say who is to blame or assume that there is a possibility of medical malpractice. However, for a more objective perspective, we have taken the liberty of presenting this case to a lawyer. In his expert opinion, it would be hard to demonstrate malpractice in this case, and this is based on the fact that the patient, from the first psychiatric evaluation until the correct diagnosis was established, did not have a constant psychiatrist, with regular consults or even respecting the treatment plan considered adherence; instead, the evaluations were performed when the patient was in a worse state, with intense symptoms. All these events could have had a negative influence on making a proper diagnosis, as it became more difficult each time she was evaluated without a history chart, without a clear description of the evolution, and without all the necessary documents and facts being presented to compare symptoms and make a proper evaluation.

It is important to highlight that schizophrenia-like symptoms could be an early manifestation of various neurodegenerative diseases, including Alzheimer’s disease and Parkinson’s disease, with certain overlaps in symptomatology, particularly in the early stages, and research is still ongoing into how psychosis manifests in various neurodegenerative diseases and whether schizophrenia could sometimes be an early symptom or “prodrome” of such diseases. Understanding the interplay between genetic, environmental, and neurobiological factors is crucial for improving early diagnosis. However, also taking into consideration the fact that schizophrenia is a distinct psychiatric disorder, its symptoms can overlap with those seen in neurodegenerative diseases, making it crucial for clinicians to consider the full spectrum of symptoms, including cognitive and motor changes, to rule out or diagnose underlying neurodegenerative conditions.

A unique aspect of our case report is the fact that the psychotic symptoms were at the center of attention for more than 10 years, with delusions and hallucinations present from the beginning, in contrast with what other studies showed, that psychotic features rise only after chorea motor manifestation [15]. Monitoring this kind of patient showed that the frequency of psychotic symptoms rises over a long course of evolution, and it is not common for them to be present as the first symptoms [16]. According to results from other studies, the female gender seems to be more associated with psychotic manifestations in Huntington’s disease [17]. This finding is particularly relevant and applies to our case, as the patient was a woman. Also, a new understanding of the first psychotic episode arises, as our patient had been first diagnosed with schizophrenia at the age of 35 years. This fact was believed in the past to be uncommon, but, nowadays, as NICE has extended the upper age limit to 65, recent studies have pointed out that women can have a second peak of psychosis in their mid–late 40s; thus, we can consider late-onset psychosis as not uncommon anymore [18]. Regarding the economic ruin delusion that our patient reported, we could consider it as being a part of Cotard’s syndrome, as she also refused to be fed or take treatment. We could consider these symptoms as a consequence of a nihilistic delusion. However, we do not think that this was the case in our patient, as the refusal of treatment and food could be connected to the paranoid delusion of food being poison and could be based on the difficulty of swallowing. On the other hand, more frequently in Cotard’s syndrome, patients report the denial of self-existence or delusions of immortality, symptoms that were not present in our patient.

Certain studies showed that there is no connection between the number of CAG repetitions and the presence of psychotic elements; others say there is a family aggregation of this kind of manifestation. When delusions and hallucinations are present, they are the most exacerbated characteristic from the clinical picture, manifest in the most affected member across generations, and are present before the onset of motor or cognitive changes, as was the case in our patient [19]. Other findings reported a link between CAG repetition and psychotic symptoms, as the longer the CAG repetition length is, the earlier it is that psychotic elements dominate the clinical picture [20]. Our patient had 44 repetitions of CAG on one allele and a second allele with 19 repetitions of CAG for the Huntington gene. This result aligns with the belief that individuals who have at least 39 or more trinucleotide repetitions, if they live long enough, will almost always experience the symptoms of Huntington’s disease [20]. We need to mention that we believe that our patient had a de novo mutation because we could not find any documented neurological or psychiatric diseases in her family. However, our information is based only on what the husband and son stated. Moreover, we could not perform genetic testing on the son because he refused it; both parents were deceased from other medical conditions. For the patient’s sister, we were told that she did not have any pathologies, and we were asked not to contact her because of the risk of being stigmatized by the family; they wanted the diagnosis to not be disclosed. The risk of stigmatization was also associated with the initial diagnosis that the patient had, one of schizophrenia, and now, after repeated questioning and explanations that Huntington’s disease is genetic, the shame was even greater. Moreover, studies emphasize the fact that the risk of developing psychosis is greater for relatives of the patients who have already experienced such symptoms than for those diagnosed with Huntington’s disease but who are free from psychotic features [21].

Considering the patient’s prognosis, the literature showed that Huntington’s disease is a progressive neurodegenerative disorder, usually leading to death 15 to 20 years after the onset of motor symptoms [22]. Regarding the evolution of our patient, she was released from the hospital and subsequently admitted to a palliative care facility to receive ongoing medical treatment, which occurred between 2022 and January 2025. We learned about this new information, as we recently contacted the husband, and he told us that the patient died last month, in January, because of aspiration pneumonia due to her difficulty in swallowing.

All the aspects described in this case report highlight the need to take a possible diagnosis of Huntington’s disease as a differential diagnosis for patients with psychotic symptoms into consideration, with the need for a meticulous investigation of abnormal motor symptoms in psychotic patients, making a careful assessment of the family’s medical history. Furthermore, the clinical picture in our patient illustrates the variable and broad range of symptoms that can be present in Huntington’s disease, leading to delays in diagnosis and proper treatment.

4. Conclusions

The excessive emphasis on motor symptoms, disregarding the importance of all other abnormalities that occur in the clinical picture of Huntington’s disease, must diminish; as proven in our case, psychiatric elements are equally important. Due to the uncertainty of when the disease begins, it is highly necessary to monitor all possible symptoms that may occur. Also, some particularly important aspects were noted in the discussed case. The patient did not have any family history of Huntington’s disease, the sickness began with a psychotic episode characterized by paranoid delusional ideation, and complex auditory and olfactory hallucinations appeared during the disease. Furthermore, the patient was diagnosed with paranoid schizophrenia and received treatment for this diagnosis for almost 11 years because of the patient’s delusional thinking, hallucinations, and delayed onset of choreiform movements. It can also be inferred that the onset of choreiform movements coincided with the beginning of dementia. Recognizing schizophrenia-like symptoms as early signs of a neurodegenerative condition could potentially lead to earlier intervention and treatment, improving the patient’s prognosis.