A predictive model for longitudinal cognitive subtypes in Parkinson's disease.

Background: Longitudinal cognitive changes in Parkinson's disease (PD) exhibit considerable heterogeneity.Predicting cognitive trajectories in early PD patients can improve prognostic counseling and guide clinical trials.

Methods: This study included 337 early PD patients with 6-year follow-up in the Parkinson's Progression Markers Initiative (PPMI) database.

Multitracer PET/CT Findings in a Case of Behavioral Variant Frontotemporal Dementia With Parkinsonism.

We report the clinical and multimodal PET/CT manifestations in a patient with behavioral variant frontotemporal dementia and parkinsonism. The 18 F-FDG PET scan revealed hypometabolism in the left supratentorial cortex. The 18 F-fluorodopa PET scan demonstrated decreased uptake in the bilateral striatum, most prominent in the head of caudate nucleus.

A prediction model for the walking and balance milestone in Parkinson's disease.

Background: Walking and balance impairments, represented by freezing of gait and falls, are significant contributors to disability in advanced Parkinson's disease (PD) patients. However, the composite measure of the Walking and Balance Milestone (WBMS) has not been thoroughly investigated.

Methods: This study included 606 early-stage PD patients from the Parkinson's Progression Markers Initiative (PPMI) database, with a disease duration of less than 2 years and no WBMS at baseline.

Disease progression subtypes of Parkinson's disease based on milestone events.

Background: Parkinson's disease (PD) demonstrates considerable heterogeneity in the manifestation of clinical symptoms and disease progression. Recently, six clinical milestones have been proposed to evaluate disease severity in PD. However, the identification of PD progression subtypes based on these milestone events has not yet been performed.

Two new cases with the UBQLN2 gene mutation in Han Chinese.

Variations in the UBQLN2 gene are associated with a group of diseases with X-linked dominant inheritance and clinical phenotypes of amyotrophic lateral sclerosis (ALS) and/or frontal temporal lobe dementia (FTD). Cases with UBQLN2 variations have been rarely reported worldwide. The reported cases exhibit strong clinical heterogeneity.

The severity of corneal nerve loss differentiates motor subtypes in patients with Parkinson's disease.

Background: Parkinson's disease (PD) is a heterogeneous movement disorder with patients manifesting with either tremor-dominant (TD) or postural instability and gait disturbance (PIGD) motor subtypes. Small nerve fiber damage occurs in patients with PD and may predict motor progression, but it is not known whether it differs between patients with different motor subtypes.

Objective: The aim of this study was to explore whether there was an association between the extent of corneal nerve loss and different motor subtypes.

Complex cerebrovascular diseases in Roberts syndrome caused by novel biallelic ESCO2 variations.

Objective: Roberts syndrome (RBS), also known as Roberts-SC phocomelia syndrome, is a rare autosomal recessive developmental disorder caused by mutations in the ESCO2 gene. Cardinal clinical manifestations are pre- and postnatal growth retardation and craniofacial and limb malformations. Here, we report RBS in a Chinese adolescent with novel biallelic ESCO2 variations and complex cerebrovascular diseases.

Novel Mutation of Hydroxymethylbilane Synthase in a Case of Acute Intermittent Porphyria Presenting with Posterior Reversible Encephalopathy Syndrome.

Acute intermittent porphyria (AIP) is an autosomal, dominant, hereditary metabolic disease caused by an inherited deficiency of hydroxymethylbilane synthase (HMBS), a crucial enzyme in the heme biosynthetic pathway. It can affect the central, peripheral, and autonomic nervous systems. We report a 23-year Chinese woman who presented with severe abdominal pain, convulsions, constipation, tachycardia, quadriparesis, and hyponatremia, accompanied by posterior reversible encephalopathy syndrome (PRES).

Comparative Study on Topological Properties of the Whole-Brain Functional Connectome in Idiopathic Rapid Eye Movement Sleep Behavior Disorder and Parkinson's Disease Without RBD.

Purpose: Idiopathic rapid eye movement Sleep Behavior Disorder (iRBD) is considered as a prodromal and most valuable warning symptom for Parkinson's disease (PD). Although iRBD and PD without RBD (nRBD-PD) are both α-synucleinopathies, whether they share the same neurodegeneration process is not clear enough. In this study, the pattern and extent of neurodegeneration were investigated and compared between early-stage nRBD-PD and iRBD from the perspective of whole-brain functional network changes.

Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families.

Introduction: Adult-onset autosomal dominant leukodystrophy (ADLD) is a rare genetic leukoencephalopathy caused by duplication of the lamin B1 gene (LMNB1) or LMNB1 upstream deletions. Neuronal intranuclear inclusion disease (NIID) is another leukoencephalopathy due to GGC repeat expansion in the 5'-untranslated region of the NOTCH2NLC gene. Here, we report two Chinese ADLD families with neuroimaging and clinical features mimicking NIID.

Encephalitis in Kikuchi-Fujimoto disease being immune-mediated.

Introduction: Histiocytic necrotizing lymphadenitis, also known as Kikuchi-Fujimoto disease, is a rare benign self-limiting inflammatory disease often seen in young adults. The main clinical features are fever with cervical lymphadenopathy. Neurological complications of Kikuchi-Fujimoto disease were occasionally reported although the specific pathogenesis was not clear.

Isolated Enhancement Effect is the Only MRI Finding for Wernicke's encephalopathy.

Wernicke's encephalopathy (WE) is an acute neuropsychiatric disorder that results from thiamine (vitamin B1) deficiency. The typical clinical manifestations, which occur as triads in 20% of patients with the disorder, are acute mental status changes, ophthalmoplegia, and ataxia. Brain magnetic resonance imaging (MRI) has important value in diagnosis as it can reveal abnormalities in the thalamus, mammillary body, third and fourth ventricles, and periaqueductal area.

More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review.

Objective: Hereditary spastic paraplegia (HSP) due to ERLIN2 gene mutations was designated as spastic paraplegia 18 (SPG18). To date, SPG18 families/cases are still rarely reported. All early reported cases shared the autosomal recessive (AR) inheritance pattern.

Genome-wide CRISPR/Cas9 screening identifies CARHSP1 responsible for radiation resistance in glioblastoma.

Glioblastomas (GBM) is the most common primary malignant brain tumor, and radiotherapy plays a critical role in its therapeutic management. Unfortunately, the development of radioresistance is universal. Here, we identified calcium-regulated heat-stable protein 1 (CARHSP1) as a critical driver for radioresistance utilizing genome-wide CRISPR activation screening.

Abnormal Striatal-Cortical Networks Contribute to the Attention/Executive Function Deficits in Idiopathic REM Sleep Behavior Disorder: A Resting State Functional MRI Study.

Introduction: The structural and functional damages of the striatum were evident in idiopathic REM sleep behavior disorder (iRBD). With the research on iRBD deepens, cognitive impairment in iRBD is getting increasing attention. However, the mechanism of cognitive impairment in iRBD was poorly understood.

Watch out for neuromyelitis optica spectrum disorder after inactivated virus vaccination for COVID-19.

With recent availability of COVID-19 vaccine, post-vaccination neurological complications had been occasionally reported. Here, we reported for the first time a case of neuromyelitis optica spectrum disorder (NMOSD) that developed after the first dose of inactivated virus vaccine for COVID-19. The patient developed mild fever, vomiting, diarrhea, and cough after receiving the first dose of inactivated virus vaccine.

Behavioral and neurobiological changes in a novel mouse model of schizophrenia induced by the combination of cuprizone and MK-801.

Schizophrenia is a mental illness characterized by episodes of psychosis, apathy, social withdrawal, and cognitive impairment. White matter lesions and glutamatergic hypofunction are reported to be the key pathogeneses underlying the multiple clinical symptoms of schizophrenia. Cuprizone (CPZ) is a copper chelator that selectively injures oligodendrocytes, and MK-801 is an antagonist of the N-methyl d-aspartate (NMDA) receptor.

Risk Factors for Long-Term Death After Medullary Infarction: A Multicenter Follow-Up Study.

We investigated the risk factors for death in patients with medullary infarction (MI) during a long-term follow-up. We retrospectively examined 179 consecutive patients (130 men and 49 women) who had clinical and MRI findings consistent with MI between February 2012 and January 2017 at three university hospitals. Long-term outcomes were assessed by telephonic interview.

Clinical comparative analysis of monophasic and multiphasic acute disseminated encephalomyelitis in adults.

Introduction: This study aims to explore the clinical features and prognostic factors for relapse of acute disseminated encephalomyelitis (ADEM) in adults.

Material And Methods: 56 patients with ADEM were retrospectively analyzed. The epidemiological characteristics, clinical manifestations, laboratory features, magnetic resonance imaging (MRI), treatment and prognosis data of these patients were analyzed using the χ test for categorical variables and Mann-Whitney -test for continuous variables.

Clinical Presentation of Sporadic Creutzfeldt-Jakob Disease in Han-Chinese.

The clinical presentation in Chinese patients with sporadic Creutzfeldt-Jakob disease (sCJD) may be unique due to the big difference in the codon 129 polymorphism of the prion protein gene (PRNP). This study retrospectively reviewed 26 cases of sCJD diagnosed in a single center in recent years. All 26 sCJD patients received brain magnetic resonance imaging scan, cerebrospinal fluid 14-3-3 protein detection, electroencephalogram, and PRNP gene screening.

Hierarchical 3D Nanolayered Duplex-Phase Zr with High Strength, Strain Hardening, and Ductility.

Nanolayered, bimetallic composites are receiving increased attention due to an exceptional combination of strength and thermal stability not possible from their coarse-layered counterparts or constituents alone. Yet, due to their 2D planar, unidirectional arrangement, they are highly anisotropic, which results in limited strain hardening and ductility. Therefore, like many high-performance, ultrastrong materials of our time, they succumb to the usual strength-ductility trade-offs.

A Case of Cerebral Amyloid Angiopathy-Related Inflammation With the Rare Apolipoprotein ε2/ε2 Genotype.

Cerebral amyloid angiopathy (CAA)-related inflammation (CAA-RI) is a rare CAA variant characterized by acute or subacute encephalopathy, headache, epilepsy, or focal neurological deficits. Radiologically, CAA-RI presents with widespread white matter lesions on brain magnetic resonance imaging (MRI) in addition to the hemorrhagic imaging features of CAA. Previous studies have found that the apolipoprotein E () ε4 allele and ε4/ε4 genotype were over-represented in CAA-RI.