The White Matter Rounds experience: The importance of a multidisciplinary network to accelerate the diagnostic process for adult patients with rare white matter disorders.

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.

Ilya Mark Scheinker: Controversial Neuroscientist and Refugee From National Socialist Europe.

Russian-born, Vienna-trained neurologist and neuropathologist Ilya Mark Scheinker collaborated with Josef Gerstmann and Ernst Sträussler in 1936 to describe the familial prion disorder now known as Gerstmann-Sträussler-Scheinker disease. Because of Nazi persecution following the annexation of Austria by Nazi Germany, Scheinker fled from Vienna to Paris, then after the German invasion of France, to New York. With the help of neurologist Tracy Putnam, Scheinker ended up at the University of Cincinnati, although his position was never guaranteed. He more than doubled his prior publications in America, and authored three landmark neuropathology textbooks. Despite his publications, he was denied tenure and had difficulty professionally in the Midwest because of prejudice against his European mannerisms. He moved back to New York for personal reasons in 1952, dying prematurely just 2 years later. Scheinker was twice uprooted, but persevered and eventually found some success as a refugee.

"With a smile through tears": the uprooted career of the man behind Gerstmann syndrome.

Austrian neuroscientist Josef Gerstmann, well known for describing Gerstmann syndrome and for pioneering works on tactile agnosia, also co-described the familial prion disorder later known as Gerstmann-Sträussler-Scheinker disease. In 1938, Nazi Germany annexed Austria (the "Anschluss") and the three-time decorated war veteran Gerstmann was dismissed from his professorship in Vienna because of his "race." In 1942, he unknowingly had his doctorate stripped, only to have it returned in 1955. The Gerstmann properties were seized in Vienna, resulting in a bitter postwar reclamation battle. Gerstmann immigrated to the United States quickly after the annexation and had some success in exile but never again directed a hospital. He maintained a private practice throughout his exile and, in the 1940s, had some research and consulting positions in New York. More than 75 years after the Anschluss, many questions remain unanswered about Gerstmann's forced exile and the impact of becoming a refugee on his life and career.

Gerstmann, Sträussler, and Scheinker: the persecution of the men behind the syndrome.

In 1936, Austrian neuroscientists Josef Gerstmann and Ernst Sträussler, along with expatriate Russian neuroscientist Ilya Mark Scheinker, described the familial prion disorder later named for them from a case they mutually treated at a Viennese neurologic hospital. In 1938, Austria was annexed to Nazi Germany in the Anschluss, effectively ending any collaboration between the 3 men. Gerstmann and Scheinker eventually immigrated to America, and Sträussler, although dismissed from his faculty position, remained protected from persecution in Vienna throughout the war likely because of his marriage to an "Aryan woman." Although he attained some degree of success in exile, Gerstmann was never again director of a hospital and primarily maintained a private practice after some brief consulting positions in New York in the 1940s. His medical degree was retroactively stripped by the Nazis without his knowledge, and was not reinstated until 1955. Gerstmann also became embroiled in a bitter struggle to regain his confiscated property in Vienna. Scheinker, aided by the refugee resettlement committee, settled in Cincinnati where he had several successful years and published 3 textbooks, but was denied university tenure and entered private practice until his untimely death. All 3 neurologists lost significant career momentum, and had to pick up the pieces of their fractured lives after the war or their forced exile. Their stories reflect many of the tragic realities of Nazi persecution of Jewish physicians.

EEG findings during tilt-table induced asystole: a case report.

Episodic loss of consciousness can be caused by epileptic seizures, but other etiologies must be considered. We report a patient with dramatic loss of consciousness during tilt-table testing and discuss the typical EEG findings and clinical manifestations during convulsive syncope.