Journal of neurology
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Journal of neurology · Sep 2021
Multicenter StudyBiallelic RFC1-expansion in a French multicentric sporadic ataxia cohort.
Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is a recessively inherited multisystem ataxia compromising cerebellar, vestibular, and sensory nerves, which has been associated to a pathogenic AAGGG(n) biallelic expansion repeat in the RFC1 gene. Our objective was to assess its prevalence in a French cohort of patients with idiopathic sporadic late-onset ataxia (ILOA), idiopathic early-onset ataxia (IEOA), or Multiple System Atrophy of Cerebellar type (MSA-C). ⋯ Our study confirms the genetic heterogeneity of the CANVAS and that RFC1 repeat expansions should be searched for preferentially in case of unexplained ILOA associated with a sensory neuronopathy, but not particularly in patients classified as MSA-C.
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Journal of neurology · Jun 2020
Multicenter Study Observational StudyBeneficial effect of 24-month bilateral subthalamic stimulation on quality of sleep in Parkinson's disease.
Subthalamic nucleus (STN) deep brain stimulation (DBS) improves quality of life (QoL), motor, and sleep symptoms in Parkinson's disease (PD). However, the long-term effects of STN-DBS on sleep and its relationship with QoL outcome are unclear. ⋯ In this multicenter study with a 24 months follow-up, we report significant sustained improvements after bilateral STN-DBS using a PD-specific sleep scale and a significant relationship between sleep and QoL improvements. This highlights the importance of sleep in holistic assessments of DBS outcomes.
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Journal of neurology · Oct 2019
Multicenter Study Observational StudyStructural integrity in subjective cognitive decline, mild cognitive impairment and Alzheimer's disease based on multicenter diffusion tensor imaging.
Subjective cognitive decline (SCD) can represent a preclinical stage of Alzheimer's disease. Diffusion tensor imaging (DTI) could aid an early diagnosis, yet only few monocentric DTI studies in SCD have been conducted, reporting heterogeneous results. We investigated microstructural changes in SCD in a larger, multicentric cohort. ⋯ DTI revealed subtle WM alterations in SCD that were intermediate between those in MCI and CON and may be useful to detect individuals with an increased risk for AD in clinical studies.
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Journal of neurology · Apr 2019
Multicenter StudyThe histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations.
The histopathological features of malignant hyperthermia (MH) and non-anaesthetic (mostly exertional) rhabdomyolysis (RM) due to RYR1 mutations have only been reported in a few cases. ⋯ Patients with RYR1-related MH and RM exhibit a similar histopathological spectrum, ranging from mild myopathic changes to cores and other features typical of RYR1-related congenital myopathies. Suggestive histopathological features may support RYR1 involvement, also in cases where the in vitro contracture test is not informative.
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Journal of neurology · Nov 2017
Multicenter StudyPrognosis of patients with primary malignant brain tumors admitted to the intensive care unit: a two-decade experience.
The purpose of this study is to describe the reasons for ICU admission and to evaluate the outcome and prognostic factors of patients with primary malignant brain tumors (PMBT) admitted to the intensive care unit (ICU). This is a retrospective observational cohort study of 196 PMBT patients admitted to two ICUs over a 19-year period. Acute respiratory failure was the main reason for ICU admission (45%) followed by seizures (25%) and non-epileptic coma (14%). ⋯ The prognosis of PMBT patients admitted to the ICU appears relatively favorable compared to that of hematologic malignancies or solid tumors, especially when the patient is admitted for seizures. The presence of a PMBT, therefore, does not appear to be sufficient for refusal of ICU admission. Predictive factors of mortality may help clinicians make optimal triage decisions.