Ruth H Walker1, Marcelo Miranda2, Hans H Jung3, Adrian Danek4. 1. Department of Neurology, James J. Peters Veterans Affairs Medical Center, Bronx, NY, USA; Department of Neurology, Mount Sinai School of Medicine, New York, NY, USA. Electronic address: ruth.walker@mssm.edu. 2. Department of Neurology, Clinica Las Condes, Santiago, Chile. 3. Department of Neurology, University and University Hospital Zurich, Zurich, Switzerland. 4. Department of Neurology, Ludwig-Maximilians-Universität München, Munich, Germany.
Abstract
OBJECTIVE: To document life expectancy and causes of death in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). METHODS: We reviewed our personal databases and the published literature to identify cases of ChAc and MLS for whom adequate information was available regarding ages of disease onset and death, cause of death, and other clinical information. RESULTS: Adequate information was obtained on 52 patients with ChAc and 34 with MLS. Causes of death included pneumonia, cardiac disease, seizure, suicide, and sepsis. Mean disease duration from diagnosis was 11 years for ChAc, while for MLS it was 21 years. CONCLUSIONS: Given the current data, causes of death in ChAc and MLS are similar to those for the phenotypically similar Huntington's disease, with additional risks due to the presence of seizures and cardiac disease. Suicidality was seen in 10% of patients with ChAc. Identifying causes of mortality is valuable for disease management and ultimately for clinical trials. In the absence of disease-modifying agents, disease management should focus upon treating symptoms which may contribute to morbidity.
OBJECTIVE: To document life expectancy and causes of death in chorea-acanthocytosis (ChAc) and McLeod syndrome (MLS). METHODS: We reviewed our personal databases and the published literature to identify cases of ChAc and MLS for whom adequate information was available regarding ages of disease onset and death, cause of death, and other clinical information. RESULTS: Adequate information was obtained on 52 patients with ChAc and 34 with MLS. Causes of death included pneumonia, cardiac disease, seizure, suicide, and sepsis. Mean disease duration from diagnosis was 11 years for ChAc, while for MLS it was 21 years. CONCLUSIONS: Given the current data, causes of death in ChAc and MLS are similar to those for the phenotypically similar Huntington's disease, with additional risks due to the presence of seizures and cardiac disease. Suicidality was seen in 10% of patients with ChAc. Identifying causes of mortality is valuable for disease management and ultimately for clinical trials. In the absence of disease-modifying agents, disease management should focus upon treating symptoms which may contribute to morbidity.
Authors: Antonia Rabe; Alexander Kihm; Alexis Darras; Kevin Peikert; Greta Simionato; Anil Kumar Dasanna; Hannes Glaß; Jürgen Geisel; Stephan Quint; Adrian Danek; Christian Wagner; Dmitry A Fedosov; Andreas Hermann; Lars Kaestner Journal: Biomolecules Date: 2021-05-12