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Catalytically activating mutations in Ptpn11, which encodes the protein tyrosine phosphatase SHP2, cause 50% of Noonan syndrome (NS) cases, whereas inactivating mutations in Ptpn11 are responsible for nearly all cases of the similar, but distinct, developmental disorder Noonan syndrome with multiple
The supportive functions of oligodendrocytes are required for the survival and development of axons, ensuring the organization of highly specialized neuronal networks in brain. Although the molecules that regulate oligodendrocyte differentiation in vitro have been identified, their roles in vivo are
OBJECTIVE
Hydrocephalus is a pathological enlargement of the ventricles of the brain, which can result from various diseases of the central nervous system. Patients with hydrocephalus frequently show motor abnormalities, such as abnormal gait and posture, as well as intellectual and emotional
Intellectual impairment has been related to alteration of neuronal innervation in the following regions: cholinergic basal forebrain nuclei (Ch1-Ch6, learning and memory), dopaminergic ventral tegmental area (emotional control), and noradrenergic locus ceruleus (cognition). Recent studies have
Corpus callosum agenesis, retardation, adducted thumbs, spastic paraparesis, and hydrocephalus (CRASH syndrome) is an X-linked recessive disorder caused by mutations in the neuronal cell adhesion molecule L1 (LICAM) gene. L1 plays a key role in axon outgrowth and pathfinding during the development
Hydrocephalus is a pathological enlargement of the cerebral ventricle that results from an obstruction of the space containing cerebrospinal fluid (CSF) in the brain. Motor abnormalities, such as abnormal gait and posture, are frequently seen in patients with hydrocephalus. The present study was
The brain stem of children with congenital aqueductal stenosis or posthemorrhagic hydrocephalus were examined histologically and immunohistochemically. Congenital aqueductal stenosis occurs in various stages of CNS development, and is associated with microdysplasia and maturational abnormalities
The brainstems of children with aqueductal stenosis (AS) and controls were examined histologically and immunohistochemically. In the periaqueductal area of children with AS, there was astrogliosis, loss of neurons (tyrosine-hydroxylase (TH) reactivity) and decreased myelination (myelin basic protein
Neuropathological and immunohistochemical studies were done on the brain-stem of neonates who had congenital hydrocephalus with aqueductal stenosis or Arnold-Chiari malformation (ACM). The infants with aqueductal stenosis showed heterogeneity in their clinicopathological findings while the infants
Structural and/or functional injury of the basal ganglia can lead to motor functional disabilities, abnormal gait and posture, and intellectual/emotional impairment, disorders also frequently seen in hydrocephalus. Previous reports have documented changes in dopamine levels in the neostriatum in
3-Nitrotyrosine is a useful marker for nitric oxide-mediated tissue injury. However, which proteins are preferred peroxynitrite modification targets is unclear. Chondroitin sulfate proteoglycans (CSPGs) abnormally accumulate in cerebrospinal fluid of human neonates with hydrocephalus and may be a
Experimental hydrocephalus was induced in rats by intracisternal injection of kaolin suspension. The amounts of norepinephrine and dopamine were determined in the whole brain and specific brain regions at 1 week (acute phase) and 4 weeks (chronic phase). The turnover of catecholamine, an index of
Tubulin tyrosine ligase-like 1 (TTLL1) protein is a member of the tubulin tyrosine ligase superfamily of proteins that are involved in the posttranslational polyglutamylation of tubulin in axonemal microtubules within cilia and flagella. To investigate the physiological role of TTLL1, the authors
Idiopathic normal pressure hydrocephalus (iNPH) is caused by the accumulation of cerebrospinal fluid (CSF) and is characterized by gait disturbance, urinary incontinence, and dementia. iNPH dementia is treatable by shunt operation; however, since the cognitive symptoms of iNPH are often similar to
Management of leptomeningeal metastasis-related hydrocephalus (LM-H) is particularly challenging regarding the control of severe headache, nausea, and vomiting due to intracranial hypertension. To investigate the improvements of performance status and outcome with cerebrospinal fluid