Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography.

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Niemann Pick disease type C (NPC) is a rare progressive neurovisceral lysosomal disorder caused by autosomal recessive mutations in the NPC1 or NPC2 genes. 18F-fluorodeoxyglucose (FDG) is a positron-emitting glucose […]

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Cortical diffusion kurtosis imaging and thalamic volume are associated with cognitive and walking performance in relapsing-remitting multiple sclerosis.

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In multiple sclerosis (MS), pronounced neurodegeneration manifests itself as cerebral gray matter (GM) atrophy, which is associated with cognitive and physical impairments. Microstructural changes in GM estimated by diffusion kurtosis […]

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A de novo STUB1 variant associated with an early adult-onset multisystemic ataxia phenotype.

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Biallelic STUB1 variants are a well-established cause of autosomal-recessive early-onset multisystemic ataxia (SCAR16). Evidence for STUB1 variants causing autosomal-dominant ataxia (SCA48) so far largely relies on segregation data in larger […]

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Association of serum neurofilament light chain levels with clinicopathology of chronic inflammatory demyelinating polyneuropathy, including NF155 reactive patients.

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To clarify whether serum neurofilament light chains (NfLs) serve as a biomarker of axonal damage in patients with chronic inflammatory demyelinating polyneuropathy (CIDP), especially in patients with anti-neurofascin 155 (NF155) […]

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A systematic review and meta-analyses on the prevalence of pregnancy outcomes in migraine treated patients: a contribution from the IMI2 ConcePTION project.

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The present study aims to summarize the safety profile of the medications used to treat migraine during pregnancy by performing a systematic review and meta-analyses. The term “migrain*” combined with […]

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MRI correlates of cognitive improvement after home-based EEG neurofeedback training in patients with multiple sclerosis: a pilot study.

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Neurofeedback training may improve cognitive function in patients with neurological disorders. However, the underlying cerebral mechanisms of such improvements are poorly understood. Therefore, we aimed to investigate MRI correlates of […]

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Coping strategies among amyotrophic lateral sclerosis (ALS) patients: an integrative review.

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To identify coping strategies used by amyotrophic lateral sclerosis (ALS) patients.Integrative literature review using the Virtual Health Library, MEDLINE, and ScienceDirect databases.Eighteen studies were included. “Seeking social support” was the […]

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Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.

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Mutations in SPG7 are increasingly identified as a common cause of spastic ataxia. We describe a cohort of Irish patients with recessive SPG7-associated phenotype.Comprehensive phenotyping was performed with documentation of […]

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The impact of anti-CGRP monoclonal antibodies in resistant migraine patients: a real-world evidence observational study.

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To evaluate the frequency and headache-related impact response to monoclonal antibodies against calcitonin gene-related peptide (CGRP) in a clinical sample of refractory migraine patients.We included migraine patients with ≥ 8 headache days/month […]

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Parvovirus B19 and mumps virus antibodies are major constituents of the intrathecal immune response in European patients with MS and increase the diagnostic sensitivity and discriminatory power of the MRZ reaction.

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A positive MRZ reaction, as defined by intrathecal IgG production against at least two of its constituents, measles virus (M), rubella virus (R) and varicella zoster virus (Z), is detectable in ~ 63% of patients with […]

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Diagnostic value of video-oculography in progressive supranuclear palsy: a controlled study in 100 patients.

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The eponymous feature of progressive supranuclear palsy (PSP) is oculomotor impairment which is one of the relevant domains in the Movement Disorder Society diagnostic criteria.We aimed to investigate the value […]

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The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients.

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The cerebellar cognitive affective syndrome scale (CCAS-S) was recently developed to detect specific neuropsychological deficits in patients with cerebellar diseases in an expedited manner.To evaluate the discriminative ability of the […]

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Correlates of the discrepancy between objective and subjective cognitive functioning in non-demented patients with Parkinson’s disease.

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Subjective complaints of cognitive deficits are not necessarily consistent with objective evidence of cognitive impairment in Parkinson’s disease (PD). Here we examined the factors associated with the objective-subjective cognitive discrepancy.We […]

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Fall prediction in neurological gait disorders: differential contributions from clinical assessment, gait analysis, and daily-life mobility monitoring.

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To evaluate the predictive validity of multimodal clinical assessment outcomes and quantitative measures of in- and off-laboratory mobility for fall-risk estimation in patients with different forms of neurological gait disorders.The […]

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