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Despite the enormous advancements seen in recent years, curative therapies for patients with genetic leukoencephalopathies are available for only a relatively small number of disorders. Therefore, symptomatic treatment and preventive management of the multiple clinical manifestations of patients with genetic leukoencephalopathies are critical in their care. The goals of the symptomatic treatment are to improve patients' quality of life, increase their survival, and reduce the impact on medical resources and related expenses. The coordinated work of a multidisciplinary team, including all specialists involved in the care of these patients, is the gold standard approach to manage and treat their complex and evolving clinical picture. Along with a multidisciplinary team, the relationship and close collaboration with the patient and their caregivers are essential. Their insight into the disease manifestations and management of the different issues should be integrated with the assessments of the multidisciplinary team to prevent clinical complications and preserve the quality of life of patients and their caregivers. Genetic leukoencephalopathies are very heterogeneous in terms of age of onset, clinical features, and disease course. However, many clinical features and problems are shared by most forms. Consequently, common therapeutic strategies apply to the majority of these diseases. This chapter presents the symptomatic approach for shared core clinical features presented by patients with genetic leukoencephalopathies divided by systems and, for each system, the specificities of some genetic leukoencephalopathies., (Copyright © 2024 Elsevier B.V. All rights are reserved, including those for text and data mining, AI training, and similar technologies.)

Introduction: Adult genetic leukoencephalopathies are rare neurological disorders that present unique diagnostic challenges due to their clinical and radiological overlap with more common white matter diseases, notably multiple sclerosis (MS). In this context, a strong collaborative multidisciplinary network is beneficial for shortening the diagnostic odyssey of these patients and preventing misdiagnosis. The White Matter Rounds (WM Rounds) are multidisciplinary international online meetings attended by more than 30 physicians and scientists from 15 participating sites that gather every month to discuss patients with atypical white matter disorders. We aim to present the experience of the WM Rounds Network and demonstrate the value of collaborative multidisciplinary international case discussion meetings in differentiating and preventing misdiagnoses between genetic white matter diseases and atypical MS., Methods: We retrospectively reviewed the demographic, clinical and radiological data of all the subjects presented at the WM Rounds since their creation in 2013., Results: Seventy-four patients (mean age 44.3) have been referred and discussed at the WM Rounds since 2013. Twenty-five (33.8%) of these patients were referred by an MS specialist for having an atypical presentation of MS, while in most of the remaining cases, the referring physician was a geneticist (23; 31.1%). Based on the WM Rounds recommendations, a definite diagnosis was made in 36/69 (52.2%) patients for which information was available for retrospective review. Of these diagnosed patients, 20 (55.6%) had a genetic disease, 8 (22.2%) had MS, 3 (8.3%) had both MS and a genetic disorder and 5 (13.9%) had other non-genetic conditions. Interestingly, among the patients initially referred by an MS specialist, 7/25 were definitively diagnosed with MS, 5/25 had a genetic condition (e.g., X-linked adrenoleukodystrophy and hereditary small vessel diseases like Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) and COL4A1 -related disorder), and one had both MS and a genetic demyelinating neuropathy. Thanks to the WM Rounds collaborative efforts, the subjects who currently remain without a definite diagnosis, despite extensive investigations performed in the clinical setting, have been recruited in research studies aimed at identifying novel forms of genetic MS mimickers., Conclusions: The experience of the WM Rounds Network demonstrates the benefit of collective discussions on complex cases to increase the diagnostic rate and decrease misdiagnosis in patients with rare or atypical white matter diseases. Networks of this nature allow physicians and scientists to compare and share information on challenging cases from across the world, provide a basis for future multicenter research studies, and serve as model for other rare diseases., (Copyright © 2022 Huang, Giacomini, Massie, Venkateswaran, Trudelle, Fadda, Sharifian-Dorche, Boudjani, Poliquin-Lasnier, Airas, Saveriano, Ziller, Miller, Martinez-Rios, Wilson, Davila, Rush, Longbrake, Longoni, Macaron, Bernard, Tampieri, Antel, Brais and La Piana.)