Age of onset correlates with clinical characteristics and prognostic outcomes in neuromyelitis optica spectrum disorder.

Objective: Neuromyelitis optica spectrum disorder (NMOSD) is an inflammatory disease preferentially affects the optic nerve and the spinal cord. The first attack usually occurs in the third or fourth decade, though patients with disease onset in the fifties or later are not uncommon. This study aimed to investigate the clinical characteristics and prognosis in patients with different age of onset and to explore the correlations between age of onset and clinical characteristics and prognostic outcomes.

Clinical features of -related neuronal intranuclear inclusion disease.

Background: Abnormal expanded GGC repeats within the gene has been confirmed as the genetic mechanism for most Asian patients with neuronal intranuclear inclusion disease (NIID). This cross-sectional observational study aimed to characterise the clinical features of -related NIID in China.

Methods: Patients with -related NIID underwent an evaluation of clinical symptoms, a neuropsychological assessment, electrophysiological examination, MRI and skin biopsy.

Clinical features and gene mutation in a family with episodic ataxia type 2.

Episodic ataxia (EA) is a group of disorders characterized by recurrent spells of vertigo, truncal ataxia, and dysarthria. Episodic ataxia type 2 (EA2), the most common subtype of EA, is an autosomal dominant disease caused by mutation of gene. EA2 has been rarely reported in the Chinese population.

Clinical and imaging features of idiopathic intracranial hypertension.

Objectives: Idiopathic intracranial hypertension (IIH) is a syndrome that excludes secondary causes such as intracranial space-occupying lesion, hydrocephalus, cerebrovascular disease, and hypoxic ischemic encephalopathy. If not be treated promptly and effectively, IIH can cause severe, permanent vision disability and intractable, disabling headache. This study aims to explore the clinical and image features for IIH, to help clinicians to understand this disease, increase the diagnose rate, and improve the outcomes of patients.

Prolonged Hemiplegic Migraine Led to Persistent Hyperperfusion and Cortical Necrosis: Case Report and Literature Review.

Hemiplegic migraine (HM) is a rare subtype of migraine characterized by aura of motor weakness accompanied by visual, sensory, and/or speech symptoms. Aura symptoms usually resolve completely; permanent attack-related deficit and radiographic change were rare. Here, we reported a case presented with progressively aggravated hemiplegic migraine episodes refractory to medication.

Variants and Genotype-Phenotype Features in Chinese CADASIL Patients.

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a cerebral small vessel disease caused by mutations in the gene. Archetypal disease-causing mutations are cysteine-affecting variants within the 34 epidermal growth factor-like repeat (EGFr) region of the Notch3 extracellular subunit. Cysteine-sparing variants and variants outside the EGFr coding region associated with CADASIL phenotype have been reported.

Olfactory Dysfunction and Its Relationship With Clinical Features of Parkinson's Disease.

To conduct an investigation into the reliability of assessing the olfactory function of patients with Parkinson's disease (PD) in a clinical setting of crowding patients in populated countries, such as China, by the hyposmia rating scale (HRS) and compare other non-motor features between patients with PD with olfactory dysfunction (PD-OD) and patients with PD without olfactory dysfunction (PD-NOD), according to the result of olfactory function assessed by the Sniffin' Sticks test. A total of 320 patients with clinically confirmed or clinically possible PD were recruited. Olfactory function of all participants was assessed with the HRS and the Sniffin' Sticks test.

GCH1 variants contribute to the risk and earlier age-at-onset of Parkinson's disease: a two-cohort case-control study.

Background: Common and rare variants of guanosine triphosphate cyclohydrolase 1 (GCH1) gene may play important roles in Parkinson's disease (PD). However, there is a lack of comprehensive analysis of GCH1 genotypes, especially in non-coding regions. The aim of this study was to explore the genetic characteristics of GCH1, including rare and common variants in coding and non-coding regions, in a large population of PD patients in Chinese mainland, as well as the phenotypic characteristics of GCH1 variant carriers.

[Myopathy associated with anti-signal recognition peptide antibodies: Five case reports].

Five patients with myopathy associated with anti-signal recognition peptide antibodies, admitted to our hospital from December 2015 to June 2018, were chosen in our study, and their clinical and pathological manifestations and treatments were retrospectively analyzed. Five patients showed subacute or chronic onset and proximal limb muscle weakness. Serum creatine kinase level was significantly elevated.

[Clinical and image features for 12 cases of cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy].

To analyze the clinical and image features for 12 patients of cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL).
 Methods: A total of 12 CADASIL patients were collected in Xiangya Hospital of Central South University from January 2013 to December 2018. The clinical manifestation, risk factors, MRI imaging data and NOTCH3 mutations were analyzed retrospectively.

Clinical features and genetic characteristics of two Chinese pedigrees with fatal family insomnia.

: Fatal familial insomnia (FFI) is a rare autosomal-dominant inherited prion disease characterized clinically by severe sleep disorder, motor signs, dysautonomia and abnormal behaviour. FFI is caused by a missense mutation at codon 178 of the prion protein gene (PRNP). Our study is aimed to explore typical clinical and genetic features of two Chinese pedigrees with FFI and review the related literatures.

Non-coding RNA in Fragile X Syndrome and Converging Mechanisms Shared by Related Disorders.

Fragile X syndrome (FXS) is one of the most common forms of hereditary intellectual disability. It is also a well-known monogenic cause of autism spectrum disorders (ASD). Repetitive trinucleotide expansion of CGG repeats in the 5'-UTR of is the pathological mutation.

[Etiologies and risk factors for young people with intracerebral hemorrhage].

To determine the etiologies and risk factors of intracerebral hemorrhage in young people.
 Methods: A total of 401 young patients with intracerebral hemorrhage were enrolled, and they were assigned into a 20-29 , a 30-39, and a 40-45 age group. The differences of various etiologies and risk factors among the three groups were analyzed.

[NOTCH3 gene mutations in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy].

Objective: To analyze potential mutations of the NOTCH3 gene in two Chinese families featuring cerebral autosomal dominant arteriopathy with subcortical infarct and leucoencephalopathy (CADASIL).

Methods: The two probands and related family members and 100 healthy controls were recruited. Potential mutations of the NOTCH3 gene were screened by PCR and direct sequencing.

[Clinical characteristics of hemichorea associated with non-ketotic hyperglycemia in 3 patients: case report and literature review].

To investigate the pathophysiology, clinical manifestation and neuroimaging characteristics and therapeutic experiences for hemichore associated with non-ketotic hyperglycemia (HC-NH).
 Methods: Clinical data of three patients with HC-NH from Xiangya Hospital, Central South University were analyzed retrospectively, and the related literature was reviewed.
 Results: The core clinical features of HC-NH were characterized by acute/subacute onset of hemichorea with non-ketotic hyperglycemia in the elderly females.

Identification of novel SPG11 mutations in a cohort of Chinese families with hereditary spastic paraplegia.

Aim Of The Study: To investigate the mutation frequency of SPG11, SPG15, SPG5 and SPG7 in China.

Materials And Methods: We have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated Chinese ARHSP families.

Results: SPG11 mutations were found in 33.

Genome-wide analysis of DNA methylation during antagonism of DMOG to MnCl2-induced cytotoxicity in the mouse substantia nigra.

Exposure to excessive manganese (Mn) causes manganism, a progressive neurodegenerative disorder similar to idiopathic Parkinson's disease (IPD). The detailed mechanisms of Mn neurotoxicity in nerve cells, especially in dopaminergic neurons are not yet fully understood. Meanwhile, it is unknown whether there exists a potential antagonist or effective drug for treating neuron damage in manganism.

Involvement of Bcl-2-associated athanogene (BAG)-family proteins in the neuroprotection by rasagiline.

Rasagiline, a novel monoamine oxidase (MAO)-B inhibitor, has a mild to moderate effect in relieving Parkinson's disease (PD) symptoms as well as unique neuroprotective effects. Previous studies demonstrated rasagiline protect neurons by regulating Bcl-2 family proteins. Our study aimed to study whether Bcl-2-associated athanogene (BAG)-family proteins, which were reported closely associated with neurodegenerative disease, were involved in the neuroprotective effect of rasagiline.

Polygenic determinants of Parkinson's disease in a Chinese population.

It has been reported that some single-nucleotide polymorphisms (SNPs) are associated with the risk of Parkinson's disease (PD), but whether a combination of these SNPs would have a stronger association with PD than any individual SNP is unknown. Sixteen SNPs located in the 8 genes and/or loci (SNCA, LRRK2, MAPT, GBA, HLA-DR, BST1, PARK16, and PARK17) were analyzed in a Chinese cohort consisting of 1061 well-characterized PD patients and 1066 control subjects from Central South of Mainland China. We found that Rep1, rs356165, and rs11931074 in SNCA gene; G2385R in LRRK2 gene; rs4698412 in BST1 gene; rs1564282 in PARK17; and L444P in GBA gene were associated with PD with adjustment of sex and age (p < 0.

Hypomethylation of SNCA in blood of patients with sporadic Parkinson's disease.

SNCA is a pathogenic gene identified in rare familial PD, and over-expression of SNCA was suggested in the pathogenesis of familial and sporadic PD. Rep1 polymorphism of SNCA was associated with susceptibility to sporadic PD and SNCA expression in intro and in vivo. Hypomethylation in SNCA intron-1 was associated with increased SNCA expression and was observed in postmortem brains of patients with sporadic PD.

Identification of CHIP as a novel causative gene for autosomal recessive cerebellar ataxia.

Autosomal recessive cerebellar ataxias are a group of neurodegenerative disorders that are characterized by complex clinical and genetic heterogeneity. Although more than 20 disease-causing genes have been identified, many patients are still currently without a molecular diagnosis. In a two-generation autosomal recessive cerebellar ataxia family, we mapped a linkage to a minimal candidate region on chromosome 16p13.