Tuberous sclerosis complex (TSC) is a genetic disease related to hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and manifested by neurological symptoms, such as epilepsy and sleep disorders.
Meta-analysis using random effect model was done to estimate the prevalence of neurological symptoms per class of antibody described in SORT1 and SORT2 articles.
CCAS is a prominent and often early feature of SCA48 which may be followed years after the onset of the disease by other complex neurological signs and symptoms.
In conclusion, we demonstrate that PHEV utilizes the integrin α5β1-FAK-Rac1/Cdc42-PAK-LIMK-cofilin pathway to cause an actin cytoskeletal rearrangement to promote its own invasion, providing theoretical support for the development of PHEV pathogenic mechanisms and new antiviral targets.<b>IMPORTANCE</b> PHEV, a member of the <i>Coronaviridae</i> family, is a typical neurotropic virus that primarily affects the nervous system of piglets to produce typical neurological symptoms.
Spinocerebellar ataxia (SCA) type 1 (SCA1) is a rare autosomal dominant disorder that is characterized by worsening of disordered coordination, ataxia of the trunk, and other neurological symptoms.
In this study, we differentiated human induced pluripotent stem cells (iPSCs) from a female patient with TSC with one or two mutations in <i>TSC2</i> into neurons using induced expression of NGN2 to examine neuronal dysregulation associated with the neurological symptoms in TSC.
Statistical analysis showed that loss of VWF-HMWM as assessed by VWF:CB < 70 IU/dL is associated with detectable anti-ADAMTS13 antibodies, severe neurological symptoms and thrombocytopenia (p < 0.05).
It is generally believed that the neurological symptoms associated with loss of PTEN and other mTORopathies (for example, mutations in the tuberous sclerosis genes TSC1 or TSC2) are due to hyperactivation of mTORC1-mediated protein synthesis<sup>1,2,4,6,7</sup>.
Intramuscular delivery of HGF-expressing recombinant AAV improves muscle integrity and alleviates neurological symptoms in the nerve crush and SOD1-G93A transgenic mouse models.
SOX2 antibodies are specific (>90%) markers for SCLC, but are rarely found in patients with other tumours, whether neurological symptoms are present or not.
In addition, the higher Th1 cells (IL-2, TNF-α, and TNF-β), Th2 cells (IL-13), and Th17 (TGF-β1, IL-23) and the course of WD were associated with the severity of the neurological symptoms for WD patients.
Acute porphyric attacks, precipitated by fasting, certain hormones and some drugs, involve induction of 5-ALAS secondarily to depletion of the above pool, and the resultant elevation of 5-ALA levels initiates the abdominal and neurological symptoms of attacks.
Various therapeutic interventions to restore GLT-1, their proposed mechanism of action and functional effects will be examined as potential treatments to attenuate the neurological symptoms associated with loss or downregulation of GLT-1.
Polymorphisms of DBH have been reported to be associated with several neurological diseases, such as Parkinson's disease, Alzheimer's disease, schizophrenia and attention-deficit hyperactivity disorder, which have overlapping neurological symptoms with WD.
In addition, the higher Th1 cells (IL-2, TNF-α, and TNF-β), Th2 cells (IL-13), and Th17 (TGF-β1, IL-23) and the course of WD were associated with the severity of the neurological symptoms for WD patients.
Patients with RTN4IP1 mutations show early-onset optic neuropathy that can be followed by additional neurological symptoms such as seizures, ataxia, mental retardation, or even severe encephalopathy.
Niemann-Pick type C (NPC) is a lysosomal lipid storage disease with mutation of NPC1/NPC2 genes, which transport lipids in the endosome and lysosome, and various neurological symptoms.
Wolfram syndrome is a rare multisystem disorder caused by mutations in WFS1 or CISD2 genes leading to brain structural abnormalities and neurological symptoms.