Explanation:
Genetic disorders of the central nervous system have a propensity to cause movement disorders or ataxia, as a part of the phenotype, or sometimes as the main phenotypic manifestation. The Online Mendelian Inheritance in Man (OMIM) database lists over 500 entries for disorders of which ataxia or a movement disorder form part. Neurologists should be alert to the possibility that patients with complex disorders involving involuntary movements or unsteadiness may have a genetic disorder.
Only those gene loci with relevance to the practising neurologist will be discussed; a more complete listing of other loci, many of which apply only to individual kindreds, is available in referenced review articles.
HUNTINGTON’S DISEASE
Huntington’s disease (HD) is the prototypic neurogenetic disorder, one of the first to be mapped (1983) and subsequently cloned (1993), and the model on which presymptomatic genetic testing is based.
The clinical triad of movement disorder, psychiatric features, and eventual dementia will be well known to neurologists. Chorea is the first manifestation in about two thirds of patients, initially a mild fidgetiness apparent only to the careful observer, which gradually progresses and may be the only clinical manifestation of HD for several years. Severe chorea may respond well to neuroleptics such as sulpiride. Personality change and eye movement disorders including slow saccades, and head thrusting or blinking to generate saccadic eye movements, are also common early features. A wide range of movement disorders including parkinsonism, loss of postural stability, and dystonia eventually supervene, leading to increasingly functional impairment. Progressive weight loss, often resulting in cachexia, is common. Presentation is usually in the forth or fifth decades, but may be at almost any age. The juvenile onset form of HD may present with parkinsonism, the so-called Westphal variant, while late onset forms may cause chorea alone.
Expansion of a polyglutamine (CAG) trinucleotide repeat beyond the critical threshold of 36 repeats results in disease, and forms the basis of the polymerase chain reaction based genetic test. Expansion size is inversely related to age at onset, but the range in age at onset for a given repeat size is so large that repeat size is not a useful predictor for individuals. Inheritance is dominant with full penetrance, meaning that almost all mutation carriers will eventually develop the disease, except those with 36–39 repeats where penetrance is reduced. Meiotic instability with a tendency to increasing expansion size, particularly during spermatogenesis, provides the molecular basis for the phenomenon of anticipation. Thus, juvenile onset cases with very large expansions usually have an affected father. A small minority (< 1%) of individuals have expansions in an intermediate range (29–35 repeats), believed to be an asymptomatic but unstable pre-mutation range, which may expand to cause disease in offspring. Dentatorubropallidoluysian atrophy (DRPLA), also caused by a trinucleotide repeat expansion, may be difficult to distinguish clinically from early onset HD, and so is usually tested for with HD.
Predictive genetic testing of asymptomatic at-risk relatives of affected patients is governed by international guidelines (see Hanna and Wood on page ii2). Prenatal testing in known mutation carriers is routinely available, while linkage based exclusion testing is available to those at-risk women who do not wish to know their own gene status. The latter depends on termination of a pregnancy where linkage shows the fetus to have the same 50% genetic risk as the mother. Preimplantation diagnosis based on selection of unaffected IVF embryos is available in some centres.
THE DYSTONIAS
Dystonia is a feature of many hereditary neurodegenerative and metabolic disorders. In most of these disorders, dystonia usually occurs in the setting of a broader clinical phenotype, and careful clinical assessment reveals other features such as cognitive involvement, pyramidal signs, or ocular abnormalities.
Primary dystonias
In this group of disorders, dystonia or dystonic tremor is (with the exception of parkinsonism in dopa responsive dystonia (DRD)) the only clinical manifestation, and imaging and pathology are usually unrevealing. These disorders have a genetic basis, with dominant inheritance in most cases. The most important of these disorders to the neurologist are DYT1 dystonia and DRD.
there is more answers for this question and it's more and more so go to https://jnnp.bmj.com/content/73/suppl_2/ii22
What does Marco scale mean
Answer:
A large macroscopic scale.
Explanation:
In the glycolytic pathway, the enzyme triose phosphate isomerase catalyzes the production of glyceraldehyde 3-phosphate (GAP) from dihydroxyacetone phosphate (DHAP). GAP continues through glycolysis via the reaction catalyzed by glyceraldehyde 3-phosphate dehydrogenase. In a muscle (myocyte) cell culture model, anaerobic conditions lead to cell death when triose phosphate isomerase is inhibited. In this same model, cells with inhibited triose phosphate isomerase survive under aerobic conditions. Briefly explain these findings including a discussion of energy production in anaerobic versus aerobic metabolism.
Answer:
In an anaerobic environment, organisms convert glucose into ethanol or lactate. In this condition, glycolysis generates 2 molecules of ATP and one molecule of NADH with the pyruvate. NADH molecule supports glycolysis by oxidized to NAD+ during the fermentation process.
Here one 6-C molecule breaks into two molecules G3P and DHAP, TPI or triose phosphate isomerase interconvert these two isomers and each triose is responsible for the production of two ATP molecules but if TPI is inhibited then there will be one ATP production which is not enough for supporting cellular process under the absence of oxygen and cell do not survive.
But in aerobic conditions pyruvate converted to acetyl CoA which produces 3 NADH, 1 FADH2, and 1 ATP that will get enough ATP by the oxidative phosphorylation hence will survive even if TPI is inhibited.
A large population of Yellow perch lives in the East river. The Walleye is a larger fish that eats the Yellow Perch. Despite lots of prey all the Walleye have moved from the East river to a new river. What most likely caused the Walleye to move to a different river?
(A)There is a lack of food in the East river which caused the Walleye to move to a different area.
(B) The Walleye are no longer able to catch the Yellow Perch and need to move to a different area.
(C)There is climate change which has caused the resources to decline in the East river.
(D) There is pollution in the East river that the Yellow Perch are adapted to but the Walleye are not.
Answer:
(D) There is pollution in the East river that the Yellow Perch are adapted to but the Walleye are not.
Explanation:
To ensure survival and cntinurd sustenance in an environment, there is need for an animal to posses certain features which would enable her cope with the conditions of the environment. The ability of animals to successfully live and survive in an environment is made possible through adaptation as the animal's adaptive features ensures the animal is able to live through and cope. If the adaptive features aren't suitable for such environment, then migration has to occurs, leading the animal to find a more suitable environment for survival. In the scenario above, the East river was presumed to be a good habitat for the Walleye and Yellow Perch, in spite of the available and abundance of food, the Walleye migrated, which is most likely due the fact that the Walleye lack the adaptive features to survive in the East river probably due to pollution which the Yellow Perch is well adapted to.
What causes the release of the digestive enzyme pepsin
Answer:
Impulses from the vagus nerve and the hormonal secretions of gastrin and secretin stimulate the release of pepsinogen into the stomach, where it is mixed with hydrochloric acid and rapidly converted to the active enzyme pepsin.
Place the labels accordingly to Biotic or Abiotic factors of this ecosystem.
(answers)
Answer:
abiotic: sea, air, rock, sun ,sea water.
biotic : shrimp , bacteria ,whelk ,
sea anemone, plankton, fish.
Explanation :
Biotic factors relate to all the living things in the ecosystem.
abiotic refers to all the non-living factors present in an ecosystem. Sunlight, water, land, all constitute the abiotic factors.
Someone please help me I will mark you BRAINLIST I need help with all 6 questions please
Answer: 1. smallpox.
the common cold and different types of flu.
measles, mumps, rubella, chicken pox, and shingles.
hepatitis.
herpes and cold sores. 2. Most notably, viruses differ from living organisms in that they cannot generate ATP. Viruses also do not possess the necessary machinery for translation, as mentioned above. They do not possess ribosomes and cannot independently form proteins from molecules of messenger RNA. 3. All viruses contain nucleic acid, either DNA or RNA (but not both), and a protein coat, which encases the nucleic acid. Some viruses are also enclosed by an envelope of fat and protein molecules. In its infective form, outside the cell, a virus particle is called a virion. 4. All viruses contain nucleic acid, either DNA or RNA (but not both), and a protein coat, which encases the nucleic acid. Some viruses are also enclosed by an envelope of fat and protein molecules. In its infective form, outside the cell, a virus particle is called a virion. 5. A bacteriophage is a virus that attacks bacterial cells. The lytic and lysogenic cycles are two methods of viral replication. In the lytic cycle, the virions produced are released from the host cell whereas in the lysogenic cycle, viral nucleic material are incorporated into host nucleic material and are copied to daughter cells when the host cell reproduces. The common steps in both cycles are given below:
1 Attachment – in this step, the bacteriophage attaches itself to the surface of the host cell so as to insert its DNA into the host cell.
2. Penetration – the virus inserts its DNA into the host cell by penetrating the cell membrane of the host cell.
3. Replication – the viral nucleic material is replicated using the host cell's replication mechanism. 6. Host range is determined by the presence of receptors on the cell's surface. Viruses attach only single species and some attack only particular types of cells within a plant or animal. brainliest?
Explanation:
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Answer:
can you please show us what the options are and I can for sure help you out?!
The figure shows a Paramecium, a single-celled freshwater protist. The hairlike
structures visible on the Paramecium allow it to move. These structures are
microfilaments.
True
False
而)
Answer:
This should be true
Explanation:
hope it helps
In the Disease Transmission experiment you will simulate exposure to a "pathogen". Predict whether the rate of exposure (the amount of contacts) will affect an individual’s chance of becoming infected. Explain your reasoning.
Answer:
Yes, the rate of exposure (the amount of contacts) will affect an individual’s chance of becoming infected
Explanation:
Yes, the rate of exposure (the amount of contacts) will affect an individual’s chance of becoming infected
The larger is the rate of exposure to infected individuals, the higher is the probability of a healthy individual to get infected.
Let us suppose , if a healthy individual comes in contact with only other healthy individuals then the individual’s chance of becoming infected will be zero.
Why do we add detergent to the strawberries? Group of answer choices To dissolve proteins that are found on the DNA molecule and release the DNA from those proteins. To dissolve the cell and nuclear membranes and release the DNA. To stabilize the DNA molecule so it doesn't fragment when dissolved in water. To keep the strawberries alive. To rinse off any dirt and pesticides that are on the strawberries.
Answer:
The correct answer is - To dissolve the cell and nuclear membranes and release the DNA.
Explanation:
The major function of the detergent in DNA extraction is to dissolve the cell and cellular membranes. It can increase the membrane permeability by pulling apart lipids and proteins that are components of the nuclear and cellular membrane and lyse the cell, from which we want to extract the DNA.
Detergents cause pores in the cell membranes and once these membranes are completely lysed the DNA is released from the cell. It is similar to detergents removes fat (lipids) from dishes.
Choose all the answers that apply.
Which of the following materials can be recycled?
•copper
•aluminum
•paper
•steel
•glass
Answer:
Paper, Aluminum, Glass, Copper, & Steel are all 100% recyclable.
Explanation:
Assignment: 02.03 Early Cells Lab report
Answer:
I don't see anything. I think you forgot to attach the picture.
scales can represent a. a range of information b. a range of resources c. proportional measurement d. all of the above
Answer:
c i think
Explanation:
Someone please help me!!
the populations decrease as you go from the bottom of the food chain to top. Why do you think is so
Answer:
The reason is so there isn't an overpopulation of predators, or not enough food to sustain them. For example: there is lots of grass for rabbits to eat, comparing that to their predator like a snake, there isn't as much rabbits for them to eat.
Explanation
Mendelian Inheritance
Two homzygous plants are crossed. One is dominant for all four traits while the other is recessive for all four traits. What are the genotypes of the parents?
Which of the following statements is true?
---------------------------------------
Convection currents in the mantle cause the movement of crustal plates.
The earth's core is made of liquid metal.
The earth's crust is very hard and strong. It is difficult for magma to break through.
The presence of sedimentary rocks means the area was once near an active volcano.
Answer:
The presence of sedimentary rocks means the area was once near an active volcano.
Explanation:
The first statement is true the rest are not true
hope it helps
The term that refers to the physical appearance of an individual with respect to gene expression for a
particular trait is
Answer:
term refers to physical appearance of an individual with respect to gene expression for particular trait. phenotype
Answer:
Phenotype , is the term that refers to the physical appearance of an individual with respect to gene expression for a particular trait
hope it helps
During which of the following periods of reproduction in ewes is fetal mortality most likely?
the final four to six weeks of gestation
the first hours after parturition
the final stages of parturition
the first month of gestation
Answer:
D
Explanation:
first month of gestation
21. What macromolecule is broken down by microflora, but not humans, and helps clean out
our digestive tracts as it moves along?
A. carbohydrates
B. cellulose
C. amino acids
D. lipids
Answer:
cellulose
Explanation:
humans do not produce the enzyme necessary to break down cellulose.
What is nitrogen fixing?
A When bacteria turn nitrogen into ammonium
В When humans absorb nitrogen
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All Rights Reserved
Answer:
A
Explanation:
i am sorry if this is wrong
How does an impulse move during reflex arc? *
Answer:
Reflex arcs
Sensory neuron sends electrical impulses to a relay neuron, which is located in the spinal cord of the CNS. Relay neurons connect sensory neurons to motor neurons. Motor neuron sends electrical impulses to an effector. Effector produces a response (muscle contracts to move hand away).
What type of organic molecule (carbohydrates proteins lipids nucleus acids) does DNA hold the instructions to make
Answer: macromolecules
Explanation:
Answer:
Proteins
Explanation:
DNA sequences are "codes" that ultimately make proteins.
Star A has a surface temperature of 8000K and its thermal emission peaks around 360nm. Star B is twice as cold, with a temperature of 4000K. Its thermal emission must peak around...
Question 3 options:
90nm
180nm
360nm
725nm
1450nm
Answer:
180 hope this helps tell me if its wrong
Explanation:
6. How might protein synthesis execute differently if a mutation occurs?
Answer:
The wrong protein can be created or the right one with abnormal function.
Explanation:
The mutated DNA is taken through the whole protein synthesis process and translated by the rRNA and tRNA to create a protein from that new sequence.
The supporting paragraphs in a research essay are built on:
A. your opinions about works of literature.
B. accepted rhetorical conventions.
C. bibliographical entries to your works-cited list.
O D. the information you gather during the research process.
Answer:
D
Explanation:
blood vessels that transport blood from heart to organs
Answer:
arteries
Explanation:
the areteries are the vessels that transport the blood from the heart to the organs.
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Answer: 1. Primary producers use energy from the sun to produce their own food in the form of glucose, and then primary producers are eaten by primary consumers who are in turn eaten by secondary consumers, and so on, so that energy flows from one trophic level, or level of the food chain, to the next.First,the sun transfers heat to the plants,helping them grow.Animals such as deer who would eat grass,eat plants. 2. Initial Observations What was the health of the ecosystem of Atlas National Park like before wolves were reintroduced? Before the wolves, all species were outside their normal range. The ecosystem was not in equilibrium at all and slowly deteriorating. 3. Wolves are causing a trophic cascade of ecological change, including helping to increase beaver populations and bring back aspen, and vegetation. brainliest?
Explanation:
Amplify The temperature of the areas surrounding Farmington before Storm 1 and before Storm 2 was about 8°C, and there was the same amount of water vapor in the air. Storm 1 had more rainfall than Storm 2. Farmington Before Storm 1: Photograph of farmland on a clear day, with a blank response box containing a question mark. The air temperature is 8° Celsius. Before Storm 2: The same scene with an air parcel in place of the blank response box. The temperature inside the air parcel is 19° Celsius and outside is 8° Celsius. Arrows labeled wind frame the air parcel, pointing inwards. What were the conditions before Storm 1, and why did more rain fall with those conditions?
Storm 1. The air parcel at the surface was warmer and had more energy, so when it moved higher, it lost more energy.
The condition before storm 1 should be that the air parcel of the surface should be considered as the warmer and contain more energy.
What are weather patterns?It means the repeated way with regard to the weather that could be occur for days or it can be for the weeks also . It should be leads by heat from the sun and the movement can be done from the air.
Moreover, in the storm 1, the air parcel of the surface should be considered as the warmer and contain more energy. Due to this, it should high and lost the energy.
learn more about air here: brainly.com/question/5096224
What is a major potential problem with DNA evidence?
Having too much DNA
Contamination from other sources
Having to heat up DNA to keep it from degrading
Having too many matches to DNA typing
Answer:
Contamination from other sources.
Explanation: