A 33-year-old man with a history of chronic toluene abuse through glue sniffing, developed tremors, cerebellar signs and cognitive decline. MR scan of the brain showed global cerebral and cerebellar […]» Read more
Parkinson’s disease (PD) presents with visuospatial impairment and falls. It is critical to understand how subthalamic deep brain stimulation (STN DBS) modulates visuospatial perception. We hypothesized that DBS has different […]» Read more
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 […]» Read more
Holmes Tremor (HT) is a unique and debilitating movement disorder. It usually results from lesions of the midbrain and its connection but can also result from posterior thalamic injury. Clinical […]» Read more
Parkinson’s disease (PD) is a neurodegenerative disorder that presents with motor and nonmotor symptoms such as bradykinesia, resting tremor, postural instability, and cognitive and neuropsychiatric manifestations. Dance therapy or complex […]» Read more
Functional motor disorders (FMDs) are usually categorized according to the predominant phenomenology; however, it is unclear whether this phenotypic classification mirrors the underlying pathophysiologic mechanisms.To compare the characteristics of patients […]» Read more
Baseline cognitive profile is closely associated with long-term motor prognosis in newly diagnosed Parkinson’s disease.
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 […]» Read more
Iron-sensitive magnetic resonance imaging in Parkinson’s disease: a systematic review and meta-analysis.
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 […]» Read more
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.
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 […]» Read more
Parkinson’s disease is the second most common neurodegenerative disease and its prevalence has been projected to double over the next 30 years. An accurate diagnosis of Parkinson’s disease remains challenging […]» Read more
A biallelic intronic AAGGG repeat expansion in the Replication Factor C subunit 1 (RFC1) gene has been recently associated with Cerebellar Ataxia, Neuropathy, Vestibular Areflexia Syndrome, a disorder often presenting […]» Read more
SARS-CoV-2-related encephalitis with prominent parkinsonism: clinical and FDG-PET correlates in two patients.
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 […]» Read more
Gastrointestinal dysfunction in Parkinson’s disease: molecular pathology and implications of gut microbiome, probiotics, and fecal microbiota transplantation.
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 […]» Read more
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 […]» Read more
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. It is treatable, and a […]» Read more
Brain hypometabolic changes in 14 adolescent-adult patients with Niemann-Pick disease type C assessed by 18F-fluorodeoxyglucose positron emission tomography.
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 […]» Read more
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 […]» Read more
Prognostic predictors relevant to end-of-life palliative care in Parkinson’s disease and related disorders: a systematic review.
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 […]» Read more
Opsoclonus-myoclonus-ataxia syndrome is a rare neuroimmunologic disorder typically presenting in previously healthy infants and toddlers. It is characterized by a clinical triad of (1) erratic saccadic intrusions; (2) myoclonus and/or […]» Read more
Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.
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 […]» Read more
Progression characteristics of the European Friedreich’s Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
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 […]» Read more
Diagnostic value of video-oculography in progressive supranuclear palsy: a controlled study in 100 patients.
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 […]» Read more
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 […]» Read more
The cerebellar cognitive affective syndrome scale reveals early neuropsychological deficits in SCA3 patients.
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 […]» Read more
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 […]» Read more
Correlates of the discrepancy between objective and subjective cognitive functioning in non-demented patients with Parkinson’s disease.
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 […]» Read more
Sympathetic and sensory nerve fiber function in multiple system atrophy and idiopathic Parkinson’s disease.
To explore small fiber somatosensory and sympathetic function in PD and MSA.We recruited 20 PD patients (7 women, median age 65.5 years; IQR 54.75-70.0), 10 MSA patients (4 women; median age […]» Read more
New pathogenic variants in COQ4 cause ataxia and neurodevelopmental disorder without detectable CoQ10 deficiency in muscle or skin fibroblasts.
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 […]» Read more
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 […]» Read more
Genetic counseling and testing practices for late-onset neurodegenerative disease: a systematic review.
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 […]» Read more