Synonyms for sottas or Related words with sottas
Examples of "sottas"
disease, also known as Dejerine–
neuropathy, progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy (and, "hereditary motor and sensory polyneuropathy type III" and "Charcot–Marie–Tooth disease type 3"), is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. The condition is caused by mutations in a various genes and currently has no known cure.
(22 May 1866, Paris – 18 September 1945, Paris) was a French neurologist.
The disorder is named for Joseph Jules Dejerine and Jules
, French neurologists who first described it.
He studied medicine in Paris, and worked in the laboratories at the Hospice de Bicêtre and the Salpêtrière. In 1894 he received his doctorate in medicine. In Paris, he was an assistant to neurologist Joseph Jules Dejerine, with whom he collaborated on a number of studies, the best known being the eponymous "Dejerine-
syndrome". The following are a list of various medical papers published by Dejerine and
neuropathy is caused by a genetic defect either in the proteins found in axons or the proteins found in myelin. Specifically, it has been associated with mutations in "MPZ", "PMP22", "PRX", and "EGR2" genes. The disorder is inherited in an autosomal dominant or autosomal recessive manner.
Myelin protein zero (P0, MPZ) is a glycoprotein which in humans is encoded by the "MPZ" gene. P0 is a major structural component of the myelin sheath, and its deficiency due to various mutations in the "MPZ" gene is associated with Charcot–Marie–Tooth disease and Dejerine–
In 1880 Gombault published an early description involving a type of hypertrophic neuritis that was later to be known as Dejerine-
syndrome. With Charcot, he performed important research of obstructive biliary cirrhosis. In 1877 he published "Etude sur la sclérose latérale amyotrophique", a study on "Charcot disease", better known as amyotrophic lateral sclerosis (ALS).
Dejerine–Roussy syndrome has also been referred to as: "Posterior Thalamic Syndrome", "Retrolenticular Syndrome", "Thalamic Hyperesthetic Anesthesia", "Thalamic Pain Syndrome", "Thalamic Syndrome", "Central Pain Syndrome", and "Central Post-Stroke Syndrome". This condition is not associated with Roussy–Lévy syndrome or Dejerine–
disease, both of which are genetic disorders.
Among his solo efforts, he published a study on syphilytic spinal paralysis, titled "Contribution à l’étude anatomique et clinique des paralysies spinales syphilitiques" (1894). In addition to his neurological research,
was the author of several works with historical themes, the following being a few of his better known writings in this field:
The early growth response protein 2 is a transcription factor with three tandem C2H2-type zinc fingers. Mutations in this gene are associated with the autosomal dominant Charcot-Marie-Tooth disease, type 1D, Dejerine–
disease, and Congenital Hypomyelinating Neuropathy. Two studies have linked "EGR2" expression to proliferation of osteoprogenitors and cell lines derived from Ewing sarcoma, which is a highly aggressive bone-associated cancer.
There are many diseases and conditions which cause a decrease in muscle mass, known as atrophy, including: inactivity, as seen when a cast is put on a limb, or upon extended bedrest (which can occur during a prolonged illness); cachexia - which is a syndrome that is a co-morbidity of cancer and congestive heart failure; chronic obstructive pulmonary disease; burns, liver failure, etc., and the wasting Dejerine-
syndrome (HMSN Type III). Glucocorticoids, a class of medications used to treat allergic and other inflammatory conditions can induce muscle atrophy by increasing break-down of muscle proteins. Other syndromes or conditions which can induce skeletal muscle atrophy are liver disease, and starvation.
disease is characterized by moderate to severe lower and upper extremity weakness and loss of sensation, which occur mainly in the lower legs, forearms, feet and hands. Loss of muscle mass and reduced muscle tone can occur as the disease progresses. Other symptoms may include pain in the extremities, curvature of the spine, clawed hands, foot deformities, ataxia, peripheral areflexia, and slow acquisition of motor skills in childhood. Symptoms that are less common can include limitation of eye movements, other eye problems such as nystagmus or anisocoria, or mild hearing loss.
Improper gene dosage of the PMP22 gene can cause aberrant protein synthesis and function of myelin sheath. Since the components of myelin are stoichiometrically set, any irregular expression of a component can cause destabilization of myelin and neuropathic disorders. Alterations of PMP22 gene expression are associated with a variety of neuropathies, such as Charcot–Marie–Tooth type 1A (CMT1A), Dejerine–
disease, and Hereditary Neuropathy with Liability to Pressure Palsy (HNPP). Too much PMP22 (e.g. caused by gene duplication) results in CMT1A, and too little PMP22 (e.g. caused by gene deletion) results in HNPP. Gene duplication of PMP22 is the most common genetic cause of CMT1A where the overproduction of PMP22 results in defects in multiple signalling pathways and dysfunction of transcriptional factors like KNOX20, SOX10 and EGR2.
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