Nucleus basalis of Meynert damage and cognition in patients with multiple sclerosis.

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The nucleus basalis of Meynert (NBM), representing the major source of cerebral cholinergic innervations, is vulnerable to neurodegeneration in Alzheimer’s and Parkinson’s disease.To determine associations between NBM properties and cognitive […]

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Baseline cognitive profile is closely associated with long-term motor prognosis in newly diagnosed Parkinson’s disease.

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To investigate the association between cognitive function at baseline and the progression of motor disability in Parkinson’s disease (PD).We consecutively enrolled 257 drug-naïve patients with early-stage PD (follow-up > 2 years) who underwent […]

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Iron-sensitive magnetic resonance imaging in Parkinson’s disease: a systematic review and meta-analysis.

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To evaluate the diagnostic performance of iron-sensitive sequences targeting the substantia nigra for distinguishing patients with Parkinson’s disease from control participants and to identify factors causing heterogeneity.A systematic literature search […]

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Memory enhancement by multidomain group cognitive training in patients with Parkinson’s disease and mild cognitive impairment: long-term effects of a multicenter randomized controlled trial.

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Meta-analyses indicate positive effects of cognitive training (CT) in patients with Parkinson’s disease (PD), however, most previous studies had small sample sizes and did not evaluate long-term follow-up. Therefore, a […]

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SARS-CoV-2-related encephalitis with prominent parkinsonism: clinical and FDG-PET correlates in two patients.

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Considering the similarities with other pandemics due to respiratory virus infections and subsequent development of neurological disorders (e.g. encephalitis lethargica after the 1918 influenza), there is growing concern about a […]

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Gastrointestinal dysfunction in Parkinson’s disease: molecular pathology and implications of gut microbiome, probiotics, and fecal microbiota transplantation.

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Gastrointestinal symptoms and gut dysbiosis may occur before the onset of motor symptoms in Parkinson’s disease (PD). Prediagnostic and prodromal features, such as constipation and α-synuclein pathology, can be detected […]

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Neuropsychological and neuroimaging characteristics of classical superficial siderosis.

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To define the neuropsychological and neuroimaging characteristics of classical infratentorial superficial siderosis (iSS), a rare but disabling disorder defined by hemosiderin deposition affecting the superficial layers of the cerebellum, brainstem and […]

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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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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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Prognostic predictors relevant to end-of-life palliative care in Parkinson’s disease and related disorders: a systematic review.

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Parkinson’s disease and related disorders (PDRD) are the second most common neurodegenerative disease and a leading cause of death. However, patients with PDRD receive less end-of-life palliative care (hospice) than […]

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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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Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.

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The European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS) investigates the natural history of Friedreich’s ataxia. We aimed to assess progression characteristics and to identify patient groups with differential progression […]

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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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Sleep disturbance in movement disorders: insights, treatments and challenges.

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Sleep and circadian rhythm disturbances are central features of many movement disorders, exacerbating motor and non-motor symptoms and impairing quality of life. Understanding these disturbances to sleep is clinically important […]

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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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Decade of progress in motor functional neurological disorder: continuing the momentum.

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Functional neurological disorder (FND) is a prevalent, disabling and costly condition at the neurology-psychiatry intersection. After being marginalised in the late 20th century, there has been renewed interest in this […]

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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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New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.

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COQ4 is a component of an enzyme complex involved in the biosynthesis of coenzyme Q10 (CoQ10), a molecule with primary importance in cell metabolism. Mutations in the COQ4 gene are […]

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Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.

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To understand contemporary genetic counseling and testing practices for late-onset neurodegenerative diseases (LONDs), and identify whether practices address the internationally accepted goals of genetic counseling: interpretation, counseling, education, and support.Four […]

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