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Truncal Ataxia
Truncal ataxia (or trunk ataxia) is a wide-based "drunken sailor" gait characterized by uncertain starts and stops, lateral deviations and unequal steps. It is an instability of the trunk and often seen during sitting. It is most visible when shifting position or walking heel-to-toe. As a result of this gait impairment, falling is a concern in patients with ataxia. Truncal ataxia affects the muscles closer to the body such as the trunk, shoulder girdle and hip girdle. It is involved in gait stability. Truncal ataxia is different from appendicular ataxia. Appendicular ataxia affects the movements of the arms and legs. It is caused by lesions of the cerebellar hemispheres. Causes Truncal ataxia is caused by midline damage to the cerebellar vermis. There are at least 34 conditions that cause truncal ataxia. Common * Alcohol intoxication * Cerebellar infarction * Cerebellar hemorrhage * Cerebellar ataxia * Multiple sclerosis * Friedreich's ataxia * Drugs such as Benzodiazepin ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Cerebellar Vermis
The cerebellar vermis (from Latin ''vermis,'' "worm") is located in the medial, cortico-nuclear zone of the cerebellum, which is in the posterior cranial fossa, posterior fossa of the cranium. The primary fissure in the vermis curves ventrolaterally to the anatomical terms of location, superior surface of the cerebellum, dividing it into anterior and posterior (anatomy), posterior lobe (anatomy), lobes. Functionally, the vermis is associated with bodily Neutral spine, posture and Motion (physics), locomotion. The vermis is included within the Anatomy of the cerebellum#Phylogenetic and functional divisions, spinocerebellum and receives somatic sensory input from the head and proximal body parts via spinal cord, ascending spinal pathways. The cerebellum develops in a rostro-caudal manner, with Anatomical terms of location#Directional terms, rostral regions in the midline giving rise to the vermis, and Caudal (anatomical term), caudal regions developing into the cerebellar hemisphere ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Christianson Syndrome
Christianson syndrome is an X linked syndrome associated with intellectual disability, microcephaly, seizures, ataxia and absent speech. Presentation Onset of symptoms is normally within the first year of life with truncal ataxia and seizures. The head is small (microcephaly). Common facial abnormalities include: * Long narrow face * Prominent nose * Prominent jaw * Open mouth Other common features include: * Uncontrolled drooling * Abnormal eye movements The associated intellectual disability is usually in the profound range. Those affected often have a happy demeanor with frequent smiling and spontaneous laughter. Genetics This condition is caused by mutations in the ''SLC9A6'' gene. This gene is located on the long arm of the X chromosome (Xq26.3). The gene encodes a sodium/hydrogen exchanger located in the endosomes. Mutations in this gene cause a decrease in the pH (overacidification) of the endosomes. How this causes the clinical features is not known presently. The ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Rett Syndrome
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in girls. Symptoms include impairments in language and coordination, and repetitive movements. Those affected often have slower growth, difficulty walking, and a smaller head size. Complications of Rett syndrome can include seizures, scoliosis, and sleeping problems. The severity of the condition is variable. Rett syndrome is due to a genetic mutation in the '' MECP2'' gene, on the X chromosome. It almost always occurs as a new mutation, with less than one percent of cases being inherited. It occurs almost exclusively in girls; boys who have a similar mutation typically die shortly after birth. Diagnosis is based on the symptoms and can be confirmed with genetic testing. There is no known cure for Rett syndrome. Treatment is directed at improving symptoms. Anticonvulsants may be used to help with seizures. Special education, physiotherapy, and le ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Polymicrogyria
Polymicrogyria (PMG) is a condition that affects the development of the human brain by multiple small gyri ( microgyri) creating excessive folding of the brain leading to an abnormally thick cortex. This abnormality can affect either one region of the brain or multiple regions. The time of onset has yet to be identified; however, it has been found to occur before birth in either the earlier or later stages of brain development. Early stages include impaired proliferation and migration of neuroblasts, while later stages show disordered post-migration development. The symptoms experienced differ depending on what part of the brain is affected. There is no specific treatment to get rid of this condition, but there are medications that can control the symptoms such as seizures, delayed development or weakened muscles as some of the noted effects. Syndromes Significant technological advances have been made within the past few decades that have allowed more extensive studies to be ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
Paraneoplastic Cerebellar Degeneration
Paraneoplastic cerebellar degeneration (PCD) is a paraneoplastic syndrome associated with a broad variety of tumors including lung cancer, ovarian cancer, breast cancer, Hodgkin’s lymphoma and others. PCD is a rare condition that occurs in less than 1% of cancer patients. As is the case with other paraneoplastic syndromes, PCD is believed to be due to an autoimmune reaction targeted against components of the central nervous system, mostly to Purkinje cells.S. Jarius, B. Wildemann: ''‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 1: Anti-mGluR1, anti-Homer-3, anti-Sj/ITPR1 and anti-CARP VIII'' 2015; 12, 16(free)/ref>S. Jarius, B. Wildemann: ''‘Medusa head ataxia’: the expanding spectrum of Purkinje cell antibodies in autoimmune cerebellar ataxia. Part 2: Anti-PKC-gamma, anti-GluR-delta2, anti-Ca/ARHGAP26 and anti-VGCC'' 2015; 12, 16(free)/ref>S. Jarius, B. Wildemann: ''‘Medusa head ataxia’: the expanding sp ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
N-acetylaspartate Deficiency
''N''-Acetylaspartic acid, or ''N''-acetylaspartate (NAA), is a derivative of aspartic acid with a formula of C6H9NO5 and a molecular weight of 175.139. NAA is the second-most-concentrated molecule in the brain after the amino acid glutamate. It is detected in the adult brain in neurons, oligodendrocytes and myelin and is synthesized in the Mitochondrion, mitochondria from the amino acid aspartic acid and Acetyl-CoA, acetyl-coenzyme A. Function The various functions served by NAA are under investigation, but the primary proposed functions include: * Neuronal osmolyte that is involved in fluid balance in the brain * Source of acetate for lipid and myelin synthesis in oligodendrocytes, the Neuroglia, glial cells that myelinate neuronal axons * Precursor for the synthesis of the neuronal dipeptide N-Acetylaspartylglutamate * Contributor to energy production from the amino acid glutamate in neuronal mitochondria. In the brain, NAA was thought to be present predominantly in neu ... [...More Info...] [...Related Items...] OR: [Wikipedia] [Google] [Baidu] [Amazon] |
