Innov Clin Neurosci. 2026;23(1–3):27–31.

by Vatsala Sharma, MD; Vimala Sim, MD, MBA; and Maria Chona P. San Gabriel, MD, DFAPA

All authors are with Department of Psychiatry, Icahn School of Medicine at Mount Sinai-NYC Health+Hospitals/Elmhurst, Queens, New York. Dr. Sharma is additionally with Department of Child and Adolescent Psychiatry, SUNY Downstate-NYC Health+Hospitals/Kings County, Brooklyn, New York. Dr. Sim is additionally with Department of Medicine, Maimonides Medical Center, Brooklyn, New York. Dr. San Gabriel is additionally with Department of Psychiatry, NYC Health+Hospitals/Woodhull, Brooklyn, New York.

FUNDING: No funding was provided for this article.

DISCLOSURES: The authors have no relevant conflicts of interest.

ABSTRACT: Background: Multiple endocrine neoplasia 2A (MEN2A) is an uncommon autosomal dominant disorder characterized by medullary thyroid cancer (MTC), parathyroid adenoma or hyperplasia, and pheochromocytoma with associated hypothyroidism, hyperparathyroidism, hypercalcemia, and catecholamine excess. Existing literature elucidates the correlation of depression with each endocrine condition. To our knowledge, this is the first case report emphasizing the multifaceted association of MEN2A and depression with contributory intergenerational psychosocial factors. case presentation: We present a 21-year-old male patient with past medical history of MEN2A and family history of coexisting MEN2A and depression, who presented with depression, psychosis, and suicidality. After exclusion of plausible MEN2A-associated endocrine causes, depression was identified to be psychiatric in etiology, subsequently responsive to sertraline and risperidone with adjunctive psychotherapy. discussion: Prophylactic thyroidectomy for MTC in MEN2A may result in thyroid derangement due to inappropriate replacement. Parathyroid adenoma can cause hyperparathyroidism with hypercalcemia. Pheochromocytoma is a benign adrenal tumor secreting excess catecholamines. These endocrine conditions in MEN2A can potentially contribute to depression. This report discusses attributing endocrine, genetic, and social factors for depression and suicidal ideation in MEN2A. Highlighted is the holistic treatment approach, including hormonal imbalance correction and psychopharmacological and psychosocial interventions necessary for symptom abatement. Conclusion: The importance of a multidisciplinary investigation of plausible etiologic factors of depression in MEN2A before committing to psychiatric interventions is emphasized. This perspective optimally addresses diagnosis, differential diagnoses, and treatment options. Awareness of familial depression in MEN2A is reinforced with potential for future research regarding genetic anticipation and holistic management strategies. Keywords: MEN2A, hypothyroidism, hyperparathyroidism, pheochromocytoma, depression

Introduction

Multiple endocrine neoplasia type 2A (MEN2A) is a rare autosomal dominant genetic disease secondary to the missense mutation in RET proto-oncogene at chromosome 10 amounting to exaggerated cell growth, resulting in medullary thyroid cancer (MTC), parathyroid adenoma, and pheochromocytoma.1 Patients with MEN2A do not necessarily develop all 3 carcinomas. According to Guerrieri et al,2 MTC is present in 100%, primary hyperparathyroidism (PHPT) in nearly 30%, and pheochromocytoma in 50% of MEN2A cases. Due to its autosomal dominance, MEN2A can affect several generations with a prevalence of 1:40,000 individuals in the United States and 1:30,000 globally.3–5 Aside from cancer-associated medical complications, patients with MEN2A may develop significant psychiatric comorbidities, such as depression, psychosis, suicidal ideation with attempts, anxiety, panic disorder, and delirium.2,3,6

MTC, a cancer of the parafollicular C cells, is the most common cause of MEN2A morbidity, thus warranting early diagnosis and timely management.7 Total thyroidectomy is performed prophylactically after detecting childhood RET mutation.7,8 Life-long thyroid hormone supplementation is required post-thyroidectomy, as improper hormonal replacement potentially leads to psychiatric symptoms.9–13 PHPT in MEN2A develops due to parathyroid adenoma or hyperplasia, indicated by an unsuppressed parathyroid hormone (PTH) level with hypercalcemia.14 Calcium affects central nervous system metabolism of monoamines, potentially modifying neurotransmission and consequently altering mood and cognition.15 Surgical resection of the parathyroid glands remains the treatment of choice.16 Pheochromocytoma, “the great mimic” in MEN2A, is a rare catecholamine-producing tumor.17 Depression in pheochromocytoma is hypothesized to be secondary to brain changes due to blood pressure variations.2 Aside from depression secondary to endocrine issues, the heritable pattern of MEN2A can chronically impact quality of life across successive generations, resulting in depression and suicidality.6 The etiology of psychiatric conditions in MEN2A and their management is complex and inadequately studied, requiring further research to delineate the management guidelines of psychiatric conditions in MEN2A.

This case report describes the diagnostic and management challenges of a unique case of MEN2A presenting with suicidal ideation and psychotic depression. Psychiatric comorbidities commonly develop secondary to thyroid abnormalities post-thyroidectomy, but interestingly, patients with MEN2A who undergo prophylactic thyroidectomy in childhood can develop psychiatric manifestations many years later in life. To our knowledge, this case report is the first to discuss the impact of thyroid abnormalities on depression and suicidality post-prophylactic thyroidectomy in MEN2A. Along with the underlying psychosocial factors, the holistic endocrine and psychiatric etiology, along with cumulative etiology-focused depression management, has not been discussed to date. By sequentially examining depression in a patient with MEN2A, this report aims to facilitate the understanding of etiology-oriented management and familial depression that could potentially inform further research for holistic therapeutic strategies.

Case Presentation

A 21-year-old male patient presented at the emergency room with depression, psychosis, and suicidal ideation after a verbal altercation with his mother. The patient penned a suicide note stating, “God told me to jump, and that I will. Till [sic] then, may God give you the strength to jump as well.” He exhibited past medical history of MEN2A and depression with no suicide attempt or self-harm behavior. On evaluation, he displayed significant psychomotor retardation, depressed affect, ongoing auditory hallucinations, paranoia, and intermittent suicidal thoughts with no plan.

The patient was domiciled with family and recently stopped attending college due to academic difficulties. At 5 years of age, given his family history, genetic testing was done which revealed RET proto-oncogene mutations, and he was subsequently diagnosed with MEN2A. Thereafter, genotype-led prophylactic thyroidectomy was performed, and thyroid replacement therapy was initiated (levothyroxine 200–250 mcg daily). The patient had been a social drinker with no significant substance use. He acknowledged sexually assaulting his 6-year-old sister “out of curiosity” at 11 years of age and endorsed ongoing guilt. He had a history of depression with ongoing therapy sessions for the past 3 months with no pharmacologic intervention. Family history was significant for MEN2A in his maternal grandmother, mother, and sister. His maternal grandmother developed depression and attempted suicide at 65 years of age. His mother was diagnosed with depression at 13 years of age with an aborted suicide attempt at 15 years of age. His 16-year-old sister developed depression at the age of 9 years, approximately 3 years after the sexual assault, and engaged in self-injurious behaviors and suicide attempts starting at 11 years of age. Both his mother and sister are receiving outpatient psychiatric services.

The patient reported absence of psychiatric symptoms until a year ago, when he experienced depressive symptoms described as sadness, tearfulness, hypersomnia, decreased appetite, guilt, and anhedonia that culminated in suicidal ideations. Symptoms continued to worsen, leading to low frustration tolerance, psychosis described as auditory hallucinations and paranoia, and self-care decline. The patient believed people were “monitoring his phone conversations” with the possibility of revisiting his sexual assault–related court case. His academic performance faltered and with school cessation, treatment was sought. Symptom exacerbation was contingent on multiple stressors, including his maternal grandmother’s death.

On admission, thyroid-stimulating hormone (TSH) was low (0.15 μIU/mL; reference range: 0.27–4.20 μIU/mL), T3 and T4 were within normal limits, and free T4 was mildly elevated at 1.76 ng/dL (reference range: 0.93–1.70 ng/dL). Levothyroxine was decreased to 150 mcg daily. Plasma catecholamines and metanephrines were within normal range. PTH was unremarkable (53.2 pg/mL; reference range 15–65 pg/mL) but with noted prior elevation (69.2 pg/mL 2 months pre-admission). Calcitonin was within normal limits, and calcium level was chronically high (10.8 mg/dL at the time of admission, 10.9 mg/dL 6 months prior, 11 mg/dL 1 year prior, and 10.8 mg/dL 2 years prior; reference range: 8.6–10.3 mg/dL). His endocrinologist confirmed intact parathyroid glands despite thyroidectomy in childhood, with consistent concern for hyperparathyroidism.

Following exclusion of plausible endocrine etiologies for his presenting psychiatric manifestations, psychopharmacologic treatment was initiated with risperidone 1 mg daily for psychosis and sertraline 25 mg daily for depression. Sertraline was subsequently up-titrated to 100 mg daily, and he remained adherent to treatment, with no medication-related side effects. The patient also received individual, group, family, and supportive psychotherapies, and he showed depressive and psychotic symptom improvement. Hamilton Depression Rating Scale score improved from 24 to 4 and Brief Psychiatric Rating Scale from 46 to 21 from admission to discharge, respectively. He was discharged on sertraline 100 mg daily for depression, risperidone 1 mg nightly for mood-congruent psychosis, and levothyroxine 150 mcg daily for post-thyroidectomy hypothyroidism.

Discussion

This case report describes the complex etiology and management of major depressive disorder with psychosis and suicidal ideation in a 21-year-old male patient diagnosed with MEN2A. The etiology of depression ranges from hormonal imbalance secondary to cancers such as MTC, hyperparathyroidism, and pheochromocytoma to extensive psychosocial stressors (Figure 1).2,3,18–20 After careful exclusion of each endocrine condition, we concluded the psychiatric manifestations to be unrelated to an endocrine etiology. Adequate response to psychopharmacologic intervention further supports our conclusion. Sparse literature describes these conditions in MEN2A cases with depression.2,3,18–20 Even so, there is dearth of literature regarding the potential role of genetic anticipation in patients with MEN2A and depression and suicidality. To our knowledge, this is the first case report discussing the holistic endocrine and psychiatric etiology of depression with psychosis and suicidal ideations in MEN2A and the potential role of genetic anticipation. This report analyzes our findings with existing literature while proposing future directions for research.

Etiology-focused management of depression in MEN2A. MTC. After thyroidectomy at 5 years of age, the patient initiated levothyroxine 200 to 250 mcg daily to maintain euthyroid state. Over the treatment course, thyroxine was adjusted as dictated by thyroid level monitoring. At the time of presentation, the patient was hyperthyroid (TSH at 0.15 μIU/mL; reference range: 0.27–4.20 μIU/mL) and levothyroxine was adjusted to 150 mcg daily. Of note, during the illness course, psychiatric symptoms and suicidality developed and worsened irrespective of thyroid state and even during periods of sustained euthyroid state. Conversely, thyroid hormone fluctuations could potentially lead to a depressive state.21 Similar to our case, Guerrieri et al2 evaluated the endocrine etiology of depression in a 27-year-old patient with MEN2A post-thyroidectomy in childhood with euthyroid state, thereby excluding thyroid derangement as possible etiology.2 To our knowledge, literature on the correlation of thyroid dysfunction with psychiatric symptoms in MEN2A is lacking. However, there is evidence of thyroid derangement in general, contributing to depression and suicide. According to a prospective study with 3,609 subjects who underwent thyroidectomy post-thyroid carcinoma, depression rates were higher within 1 to 2 years of thyroidectomy.9 This is pertinent to patients with MEN2A diagnosed with depression after thyroidectomy and post-MTC diagnosis, as most patients have prophylactic thyroidectomy in childhood. Overlap of psychosis with hyperthyroidism and depression is possible, which may require antipsychotics for symptom abatement.22,23 A few studies have assessed suicide risk in hypothyroidism and hyperthyroidism, but none are restricted to patients with MEN2A. Toloza et al24 identified a correlation between suicidal behavior and low thyroid levels, suggesting evidence of thyroid hormone involvement in the regulation of serotonin and norepinephrine in suicide pathogenesis.

PHPT. Elevated PTH was evident 1 year before presentation (69.2 pg/mL; reference range: 15–65 pg/mL) but remained normal during the patient’s admission (53.2 pg/mL). Calcium was chronically high with unremarkable phosphorus. Due to low suspicion of adenoma or hyperplasia given normal PTH level, phosphorus level, and mild calcium elevation, parathyroid imaging was not warranted. The etiology of chronic mild hypercalcemia remained unclear. Similar to our patient’s depressive presentation, a case report on a 14-year-old girl with a significant family history of depression and renal stones was found to have PHPT along with hypercalcemia. MEN2A was suspected but the family refused consent for genetic testing.18 Existing literature substantiates the significant role of parathyroidectomy in the management of PHPT with associated hypercalcemia contributing to depression and suicidal ideation.

Evidence suggests parathyroidectomy at the time of diagnosis improves psychiatric outcomes with a 51% reduction in suicide ideation rate.25 The cure rates for PHPT-related hypercalcemia postparathyroidectomy are 95% to 99%.15 Surgical intervention remains the exclusive treatment to address contributory psychiatric symptoms, even with mild hypercalcemia.25 However, hypercalcemia was excluded as the potential etiology of depression in our patient, as it predated the onset of psychiatric symptoms.

Pheochromocytoma. Our patient had unremarkable vitals; normal catecholamines (norepinephrine 391 pg/mL and epinephrine 24 pg/mL; reference range: 0–874 pg/mL and 0–62 pg/mL, respectively), metanephrine (71.7 pg/mL; reference range: 0–88 pg/mL), and normetanephrine (47.9 pg/mL; reference range: 0–210.1 pg/mL); and undetectable serum calcitonin. Therefore, further investigation was not indicated, and pheochromocytoma was excluded as the likely etiology. Based on literature search, there is only 1 case report describing psychotic depression in a 27-year-old male patient diagnosed with MEN2A and bilateral pheochromocytomas.2 Unlike our patient, this patient had high basal serum calcitonin levels (158 pg/mL) with no autonomic hyperactivity and unremarkable plasma catecholamines and vanillylmandelic acid. The patient’s diagnosis was confirmed by imaging and psychotic symptom resolution postsurgery.2

Psychosocial stressors. Multiple psychosocial stressors contributed to our patient’s condition, including medical-, financial-, and academic-related factors; guilt; his mother’s medical condition; the death of his maternal grandmother; and anticipation of MEN2A symptom exacerbation requiring extensive psychotherapeutic intervention. Given the heritable nature of MEN2A, the associated stressors exist in the families, thus impacting the mental health of family members. Extensive literature elaborates on these challenges, including positive mutation carrier status stigmatization, guilt for germline mutation transmission to offspring, fear of social discrimination, and financial concerns regarding lifelong medical treatments.6 Literature suggests unfavorable deoxyribonucleic acid (DNA) analysis results in a combination of diagnostic clarification–related transient relief followed by anxiety and depression.26 Distress can also occur post-tumor resection due to fear of cancer recurrence. One study showcased the long-term distress rate observed in MEN2A-related MTC cases (anxiety and/or depression: 46%; Hospital Anxiety and Depression Scale score ≥8) being more frequent than short-term distress in patients with MEN2A at 1 year following disclosure of genetic testing results (20%).6 In another study, patients with MEN2A reported elevated fatigue levels compared to other chronic conditions. Overall, it was concluded that psychological burden, including anxiety and depression, is high in MEN2A.27

Depression and suicidal ideation in MEN2A families. Apart from the endocrine-related factors, the heritable pattern of MEN2A may contribute to depression in successive generations, which potentially leads to unexplored familial depression and suicidal ideation. The pathophysiology of depression across families has been described in existing literature, but MEN2A-associated familial depression is unexplored. Research suggests depression, in general, is prevalent in families across multiple generations secondary to information processing biases and negative cognitive schemas in the offspring of parents with depression.28 The cognitive biases have their origins in childhood before the onset of depression, and neuroimaging on patients at familial risk for depression reflects anomalies involving emotion and reward circuits of the brain.28 A study with 8,098 subjects in the United States found increased suicidal ideation and suicide attempts among offspring of parents with suicidal ideation and suicide attempts, possibly secondary to increased mental health problems in offspring, in turn increasing suicide attempts.29

Anticipation is a genetic phenomenon where the age of onset of an autosomal dominant condition becomes earlier, with increased severity of the disease in successive generations.30 The patient’s grandmother developed depression in her 60s, his mother at 13 years of age, and his sister at 9 years of age, indicating the likelihood of genetic anticipation in MEN2A-associated familial depression. Similarly, the age of suicide attempts decreased successively in the patient’s family, at 65, 15, and 11 years of age for the patient’s grandmother, mother, and sister, respectively. This could be due to the cumulative effect of psychosocial stressors encountered by patients with MEN2A. Likewise, the earlier diagnosis of depression with successive generations due to increasing mental health awareness in the family cannot be negated. Contrary to this, the progressively earlier suicide attempts in the family favor the role of genetic anticipation. Although none of the literature is specific to MEN2A-associated depression and suicidality, literature is suggestive of anticipation in depression, bipolar disorder, schizophrenia, and schizoaffective disorder.30–32

The depression in our patient’s family had an enormous impact on his wellbeing, which was partly triggered by hateful remarks from his mother, who has depression. Therefore, the treatment of depression in patients with MEN2A would be insufficient without addressing the whole family. We recommend clinicians consider each endocrine association profoundly before treating the MEN2A case from a psychiatric perspective. The endocrinologist and psychiatrist should address psychiatric symptomatology in MEN2A in liaison to optimize management. An interdisciplinary approach is emphasized to optimally address symptoms, pharmacologic treatment, and drug interactions, thereby improving overall prognosis. It is also recommended that patients with MEN2A presenting with depression be explored for familial depression, and family therapy is recommended to address the psychosocial factors impacting family dynamics. Participation in MEN2A-tailored support groups can reduce the feeling of loneliness and foster opportunities.

Limitations. The evidence was gathered from 1 patient with potential familial depression and genetic anticipation. Future large-scale studies are needed to reproduce the results. The dearth of literature describing the neuropsychiatric manifestations in MEN2A limits the comparative overview with comorbid depression.

Conclusion

We describe a case of MEN2A, a rare genetic disease secondary to RET proto-oncogene mutation, and its potential link with depression and suicidal ideation. Careful evaluation of plausible etiologies with stepwise exclusion is emphasized, as it directs treatment interventions. Future large-scale studies are imperative to discuss the interplay of thyroid derangement, hyperparathyroidism, hypercalcemia, and pheochromocytoma in MEN2A-associated psychiatric manifestations. The importance of familial depression patterns and potential genetic anticipation in patients with MEN2A presents future research opportunities to understand this condition further and pave the way for new treatment options. Exploration of depression prevention measures in the offspring of patients with MEN2A and comorbid depression is likewise encouraged.

Ethics Statement

Patient consent has been written and archived with the primary and corresponding author. The patient provided consent for publication and collateral was obtained from the mother, who provided additional family history.

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