Comparison of the ability of different quantitative indices in I-FP-CIT single-photon emission computed tomography to differentiate dopaminergic neurodegenerative disease.

Purpose: By imaging dopamine transporter (DAT) uptake in the striatum, I-FP-CIT SPECT can differentiate dopaminergic neurodegenerative disease (dNDD) and non-dNDD, which differ in pathophysiology and clinical management. Our aim was to compare and validate the diagnostic abilities of various I-FP-CIT SPECT quantitative indices for dNDD.

Materials And Methods: Distribution volume ratio (DVR) and binding ratio (BR), measures of DAT uptake capacity, were measured by analyzing clinical I-FP-CIT SPECT images of 29 patients with dNDD, including dementia with Lewy bodies and Parkinson's disease, and 18 patients with non-dNDD, using Montreal Neurological Institute space-based anatomical standardization and an atlas template, which utilizes statistical parametric mapping.

[Drugs for Neurogenic Bladder Dysfunction].

Urinary dysfunction includes an overactive bladder (OAB), post-void residual (PVR)/retention, or both entities. Brain diseases cause OAB, peripheral neuropathies are associated with significant PVR/retention, and multisystem atrophy/spinal cord diseases result in a combination of OAB and PVR/retention. Selective beta 3 adrenergic receptor agonists or anticholinergic agents are the first-choice treatment for OAB and clean intermittent self-catheterization, alpha-blocker and cholinergic stimulant therapy for significant PVR/retention.

How brain diseases affect the lower urinary tract function?

This article reviewed brain mechanism of the lower urinary tract (LUT). Among autonomic nervous systems, LUT is unique in terms of afferent pathophysiology; bladder sensation is perceived soon after the storage phase and throughout the voiding phase. Within the brain, this is measured in experimental animals by the firing of single neurons and in humans by evoked potentials/functional neuroimaging.

[New MDS Criteria for the Diagnosis of Multiple System Atrophy: An Autonomic Viewpoint].

We reviewed the autonomic dysfunction in multiple system atrophy (MSA) with reference to the new MDS criteria. MSA is a major neurodegenerative disorder that presents with autonomic and motor dysfunctions (cerebellar ataxia and/or parkinsonism). Autonomic dysfunction in MSA affects urinary, cardiac, gastrointestinal, otorhinolaryngologic, and respiratory functions.

Varicella-zoster virus infection and autonomic dysfunction.

Background And Purpose: Autonomic dysfunction has been occasionally described in varicella-zoster virus (VZV) infection, while few systematic reviews are available. We systematically review autonomic dysfunction due to VZV infection.

Methods: This study followed the PRISMA guideline, and three databases were researched and included cross-sectional studies in full-length publications in the English language using appropriate search keywords.

Novel heterozygous variants of SLC12A6 in Japanese families with Charcot-Marie-Tooth disease.

Background: Recessive mutations in SLC12A6 have been linked to hereditary motor sensory neuropathy with agenesis of the corpus callosum. Patients with early-onset peripheral neuropathy associated with SLC12A6 heterozygous variants were reported in 2016. Only five families and three variants have been reported to date, and the spectrum is unclear.

Female Urinary Retention Progressing to Possible Multiple System Atrophy-cerebellar Form after 12 Years.

We herein report a 73-year-old Japanese woman with possible multiple system atrophy-cerebellar form (MSA-C) who suffered from urinary retention (sacral autonomic disorder) for 12 years before exhibiting cerebellar ataxia. A peculiar combination of findings on urodynamics and sphincter electromyography (EMG), e.g.

DRD2 Taq1A Polymorphism-Related Brain Volume Changes in Parkinson's Disease: Voxel-Based Morphometry.

Taq1A polymorphism is a DRD2 gene variant located in an exon of the ANKK1 gene and has an important role in the brain's dopaminergic functions. Some studies have indicated that A1 carriers have an increased risk of developing Parkinson's disease (PD) and show poorer clinical performance than A2 homo carriers. Previous studies have suggested that A1 carriers had fewer dopamine D2 receptors in the caudate and increased cortical activity as a compensatory mechanism.

Increased biological antioxidant potential in the cerebrospinal fluid of transient global amnesia patients.

Oxidative stress may accompany the pathological process in transient global amnesia (TGA). We measured the biological antioxidant potential (BAP) in the cerebrospinal fluid (CSF) of TGA patients. We enrolled 13 TGA patients (7 men, 6 women; mean age 65.

Severe orthostatic hypotension associated with lesions of the area postraema in neuromyelitis optica spectrum disorder.

Hiccups, nausea and vomiting are known as the clinical manifestations of neuromyelitis optica spectrum disorder (NMOSD) linked to lesions of the area postraema in the medullary tegmentum. Here, we describe a 74-year-old male patient with NMOSD who presented with recurrent syncope due to severe orthostatic hypotension (OH) following symptoms of hiccups, nausea and vomiting. Brain magnetic resonance imaging revealed the lesion of the area postraema and it could be responsible for the symptom of OH.

Gene expression profiling of the spinal cord at the chronic pain phase identified CDKL5 as a candidate gene for neural remodeling.

Background: Chronic pain is a highly refractory and complicated condition that persists even without nociception. Several genome-wide gene expression analyses have shown that the immune response and inflammatory cytokines affect chronic pain establishment in the acute pain phase. However, compared with the acute phase, the chronic phase has a poorly elucidated gene expression profile.

Split hand and motor axonal hyperexcitability in spinal and bulbar muscular atrophy.

Objective: The 'split hand' sign refers to preferential wasting of the thenar and first dorsal interosseous muscles with relatively sparing of the hypothenar muscles in amyotrophic lateral sclerosis (ALS) and both cortical and spinal/peripheral excitotoxic mechanisms have been proposed. We aimed to study split hand and axonal excitability in spinal and bulbar muscular atrophy (SBMA) in which cortical motor neurons are intact.

Methods: In 35 patients with genetically confirmed SBMA, 55 with ALS, 158 with other neuromuscular diseases and 90 normal controls; split hand was strictly determined by amplitudes of compound muscle action potentials.

Facial onset amyotrophic lateral sclerosis with K3E variant in the Cu/Zn superoxide dismutase gene.

We describe a 48-year-old man, suffering from difficulties in closing his eyes. He subsequently experienced progressive weakness in the facial and bulbar regions and upper limbs. His father and paternal grandmother had limb weakness as initial manifestations and were diagnosed with amyotrophic lateral sclerosis (ALS).

Monoamine oxidase B rs1799836 G allele polymorphism is a risk factor for early development of levodopa-induced dyskinesia in Parkinson's disease.

Background: Dopamine replacement therapy is an established treatment for motor symptoms of Parkinson's disease, but its long-term use is often limited by the eventual development of motor complications, including levodopa-induced dyskinesia. Genetic background, particularly polymorphisms of dopamine metabolism genes, may affect the occurrence of dyskinesia in Parkinson's disease patients.

Methods: We investigated polymorphisms of dopamine metabolism genes, including catechol--methyltransferase, monoamine oxidase B, dopamine beta-hydroxylasedopamine, dopamine receptors D1, D2, and D3, and dopamine transporter, in 110 patients with Parkinson's disease.

Temporal expression profiling of DAMPs-related genes revealed the biphasic post-ischemic inflammation in the experimental stroke model.

The neuroinflammation in the ischemic brain could occur as sterile inflammation in response to damage-associated molecular patterns (DAMPs). However, its long-term dynamic transcriptional changes remain poorly understood. It is also unknown whether this neuroinflammation contributes to the recovery or just deteriorates the outcome.

Multiplex PCR and multicolor probes melting for the simultaneous detection of five UGT1A1 variants.

The multiplex PCR melting analysis method was developed for detecting the five UGT1A1 variants. Multiplexing was achieved using color probes and T. The probes for *28/*6, *27, *29, and *7 were discriminated by colors.

Evaluation of analytical factors associated with targeted MEFV gene sequencing using long-range PCR/massively parallel sequencing of whole blood DNA for molecular diagnosis of Familial Mediterranean fever.

Background: Long-range PCR (LR-PCR) is used to enrich the target regions of the genome. This study aimed to establish the pipeline of targeted gene sequencing using LR-PCR and massively parallel sequencing (MPS).

Methods: The 14-kb-long MEFV gene, including the entire coding exons, was selected as a target gene and amplified using LR-PCR.

Increased IP-10 production by blood-nerve barrier in multifocal acquired demyelinating sensory and motor neuropathy and multifocal motor neuropathy.

Objective: Dysfunction of the blood-nerve barrier (BNB) plays important roles in chronic inflammatory demyelinating polyneuropathy (CIDP) and multifocal motor neuropathy (MMN). The aim of the present study was to identify the candidate cytokines/chemokines that cause the breakdown of the BNB using sera from patients with CIDP and MMN.

Methods: We determined the levels of 27 cytokines and chemokines in human peripheral nerve microvascular endothelial cells (PnMECs) after exposure to sera obtained from patients with CIDP variants (typical CIDP and multifocal acquired demyelinating sensory and motor neuropathy [MADSAM]), MMN and amyotrophic lateral sclerosis (ALS), and healthy controls (HC), using a multiplexed fluorescent bead-based immunoassay system.

Genetic Screening for Spinocerebellar Ataxia Genes in a Japanese Single-Hospital Cohort.

Objective: Diagnosis of sporadic cerebellar ataxia is a challenge for neurologists. A wide range of potential causes exist, including chronic alcohol use, multiple system atrophy of cerebellar type (MSA-C), and sporadic late cortical cerebellar atrophy. Recently, an autosomal-dominant spinocerebellar ataxia (SCA) mutation was identified in a cohort of patients with non-MSA-C sporadic cerebellar ataxia.

Astrocytic tight junctions control inflammatory CNS lesion pathogenesis.

Lesions and neurologic disability in inflammatory CNS diseases such as multiple sclerosis (MS) result from the translocation of leukocytes and humoral factors from the vasculature, first across the endothelial blood-brain barrier (BBB) and then across the astrocytic glia limitans (GL). Factors secreted by reactive astrocytes open the BBB by disrupting endothelial tight junctions (TJs), but the mechanisms that control access across the GL are unknown. Here, we report that in inflammatory lesions, a second barrier composed of reactive astrocyte TJs of claudin 1 (CLDN1), CLDN4, and junctional adhesion molecule A (JAM-A) subunits is induced at the GL.

Interleukin-6 analysis of 572 consecutive CSF samples from neurological disorders: A special focus on neuromyelitis optica.

Background: Elevation of cerebrospinal fluid (CSF) interleukin (IL)-6 has been reported in various neurological disorders but has never been systematically analyzed. Our main objectives are to compare the CSF IL-6 levels among various neurological disorders and to evaluate the significance of CSF IL-6 measurements for the diagnosis of neuromyelitis optica (NMO).

Methods: We retrospectively investigated the IL-6 levels of 572 consecutive CSF samples in patients with various neurological disorders.

Karyopherin Alpha Proteins Regulate Oligodendrocyte Differentiation.

Proper regulation of the coordinated transcriptional program that drives oligodendrocyte (OL) differentiation is essential for central nervous system myelin formation and repair. Nuclear import, mediated in part by a group of karyopherin alpha (Kpna) proteins, regulates transcription factor access to the genome. Understanding how canonical nuclear import functions to control genomic access in OL differentiation may aid in the creation of novel therapeutics to stimulate myelination and remyelination.