Psychiatria pre prax 4/2020

Schizophrenia in a patient with Huntington̒s disease in the family

Huntington‘s disease is a genetically determined autosomal inherited disease with high penetration resulting from pathological multiplication of CAG triplets. In addition to motor symptoms, cognitive and psychiatric symptoms are characteristic, which may even precede motor symptoms. Cases of familial schizophreniform psychoses in families with Huntington′s disease have been repeatedly reported in the literature. Psychotic disorder in a patient with a positive family history of Huntington′s disease is a diagnostic, therapeutic, prognostic and ethical problem as well. Inproper diagnostics and therapy may significantly worsen the patient´s quality of life, deepen stigma and induce forensic consequences. Predictive testing of asymptomatic offsprings of a patient with Huntington′s disease is problematic aspect as well. If they develop a psychotic disorder, the potential impact of predictive testing results on the course of the psychotic disorder, especially on potential relapse and suicidality, should be considered as well. The presence of Huntington′s disease in the family of a patient with a psychotic disorder also modifies family planning. The psychiatrist must be prepared to answer the questions regarding the possibilities of preimplantation and prenatal genetic diagnostics. The presented case report describes the case of a patient with schizophrenia with Huntington′s disease in family who was hospitalized in a psychiatric ward. Her treatment included, in addition to a combination of psychopharmacotherapy and electroconvulsive therapy, comprehensive counseling regarding predictive testing and parenting planning options with respect to both diagnoses.

Keywords: Huntington‘s disease, schizophrenia, predictive testing, preimplantation diagnostics, psychosis