Description d'une cohorte rétrospective de 209 patients avec diagnostic de neuroborréliose au CHU de Strasbourg entre 2000 et 2020 : thèse présentée pour le diplôme de docteur en médecine, diplôme d'État, mention neurologie

Médecine (neurologie)Introduction : La neuroborréliose est une manifestation fréquente de la maladie de Lyme, zoonose répandue dans l’hémisphère Nord. Ce travail a porté sur la description d’une cohorte de patients avec diagnostic de neuroborréliose au CHU de Strasbourg, en région française d’endémie. Méthodes : Les patients avec diagnostic de neuroborréliose au CHU de Strasbourg ont été sélectionnés de manière rétrospective, entre 2000 et 2020 pour les patients hospitalisés en neurologie et entre 2005 et 2020 pour les patients d’autres services. Les critères diagnostiques de l’EFNS ont été utilisés. Les éléments cliniques, paracliniques, et les données d’évolution clinique ont été recueillis. Résultats : L’étude a inclus 209 patients dont 13 enfants, avec un âge moyen au début des symptômes de 55 ans, et une majorité d’hommes. Il existait 81 cas (39%) de diagnostic certain, 93 cas (44%) de diagnostic possible, et 35 cas (17%) de diagnostic douteux. Cent vingt-neuf patients (64%) présentaient une forme précoce. Cent dix-neuf (57%) patients avaient une atteinte du système nerveux périphérique (SNP), 64 (31%) une atteinte du système nerveux central (SNC), 27 (13%) une atteinte du SNC et SNP. Les symptômes les plus fréquents étaient les troubles cognitifs (24%) et les radiculalgies (23%). La sérologie ELISA était plus fréquemment positive dans le LCR que dans le sang. La majorité (95%) des patients a été traitée par antibiothérapie à l’issue de l’hospitalisation. L’évolution était favorable pour 68% des patients. Une neuroborréliose précoce plutôt que tardive, certaine plutôt que possible ou douteuse, et une atteinte du SNP plutôt que du SNC étaient associées à une évolution favorable. Conclusion : Cette cohorte strasbourgeoise de patients avec diagnostic de neuroborréliose à différents stades montre la diversité clinique de cette pathologie. Un diagnostic précoce semble souhaitable afin d’améliorer le pronostic des patientsIntroduction - Neuroborreliosis is a common manifestation of Lyme disease, a zoonosis which is prevalent in Northern Hemisphere. This study aimed to describe a cohort of patients with neuroborreliosis diagnosed at Strasbourg University Hospital, in a French endemic area. Methods - Patients diagnosed with neuroborreliosis in Strasbourg University Hospital between 2000 and 2020 for patients who were hospitalized in neurology and 2005 and 2020 for patients who were in another service were restrospectively included in this study. Results - The study included 209 patients, predominantly male, including 13 children, with a mean age at symptoms onset of 55 years. The diagnosis was definite for 81 cases (39%), possible for 93 cases (44%), and doubtful for 35 cases (17%). 129 patients (64%) had an early disease. 119 patients (57%) had a peripheral nervous sytem involvement only, 64 (31%) a central nervous system involvement only, and 27 (13%) had involvement of both central and peripheral nervous system. The most common clinical symptoms were cognitive disorders (24%) and radicular pain (23%). The ELISA screening assay was more frequently positive in CSF than in blood. Most patients (95%) were treated with antibiotics at diagnosis. The clinical outcome was favorable for 68% of patients. An early rather than chronic neuroborreliosis, definite rather than possible or doubtful, and a peripheral rather than central nervous system involvement were associated with a good outcome. Conclusion - This cohort of patients with neuroborreliosis diagnosed in Strasbourg University Hospital at different stages shows the wide clinical spectrum of this disease. An early diagnosis seems required to improve the clinical outcom

Unravelling the etiology of sporadic late-onset cerebellar ataxia in a cohort of 205 patients: a prospective study

BACKGROUND: Despite recent progress in the field of genetics, sporadic late-onset (> 40 years) cerebellar ataxia (SLOCA) etiology remains frequently elusive, while the optimal diagnostic workup still needs to be determined. We aimed to comprehensively describe the causes of SLOCA and to discuss the relevance of the investigations. METHODS: We included 205 consecutive patients with SLOCA seen in our referral center. Patients were prospectively investigated using exhaustive clinical assessment, biochemical, genetic, electrophysiological, and imaging explorations. RESULTS: We established a diagnosis in 135 (66%) patients and reported 26 different causes for SLOCA, the most frequent being multiple system atrophy cerebellar type (MSA-C) (41%). Fifty-one patients (25%) had various causes of SLOCA including immune-mediated diseases such as multiple sclerosis or anti-GAD antibody-mediated ataxia; and other causes, such as alcoholic cerebellar degeneration, superficial siderosis, or Creutzfeldt-Jakob disease. We also identified 11 genetic causes in 20 patients, including SPG7 (n = 4), RFC1-associated CANVAS (n = 3), SLC20A2 (n = 3), very-late-onset Friedreich's ataxia (n = 2), FXTAS (n = 2), SCA3 (n = 1), SCA17 (n = 1), DRPLA (n = 1), MYORG (n = 1), MELAS (n = 1), and a mitochondriopathy (n = 1) that were less severe than MSA-C (p < 0.001). Remaining patients (34%) had idiopathic late-onset cerebellar ataxia which was less severe than MSA-C (p < 0.01). CONCLUSION: Our prospective study provides an exhaustive picture of the etiology of SLOCA and clues regarding yield of investigations and diagnostic workup. Based on our observations, we established a diagnostic algorithm for SLOCA