RESEARCH ON REGENERATION SPINAL CORD

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Approximately 2.5 million people living with spinal cord injury (SCI) in the world. In Europe, at least 330 0001 individuals are paralyzed following an LME, and about 11,000 new cases are diagnosed each year. In addition to the social and human consequences désastreuses2, a recommendation of the Council of Europe (REC 1560 (2002)) 3 emphasizes the huge economic cost induit4 and concludes that “member states of the Council of Europe should make greater concerted efforts to support and fund research in this area. ”

Since its inception in March 2006, the European Federation of Spinal Cord Injury (European Federation Spinal Cord Injury – ESCIF) is committed to supporting and encouraging research on the LME. She has actively participated in the implementation of projects to gather information with its members and has worked with professionals and researchers specializing in LME European research efforts. The statutes of the ESCIF put forward the support of the federation for research that can improve the quality of life of people living with SCI but did not mention the research on functional recovery. In 2006, Europe, the possibility of a “treatment” against paralysis appeared to be a rather distant project.

Since then, however, neuroscience has made significant progress toward the treatment of paralysis, to the extent that functional recovery is now a realistic goal to some degree. Many promising research is currently in clinical trials worldwide, and still others are in preparation to pass the tests on humans. To promote these scientific advances and their application in humans, it is essential that there is support, funding and considerable infrastructure.

We, the ESCIF, representing hundreds of thousands of people living with SCI throughout Europe, strongly support research for regenerative spinal cord to help treat paralysis for those millions of people already infected and future.

Therefore, we urge member states of the Council of Europe, the European Union and the Member States of the European Union to support and invest in research for regenerative lesions of the spinal cord:

 Increasing funding for basic research, translational and clinical research on regenerative lesions of the spinal cord;

 Allowing a transfer within a period of promising research laboratories to patients with sufficient funding, efficient infrastructure and collaborative networks;

 Adopting regulations and legislation adapted for efficient translation in a timely and promising research without compromising patient safety and ethics

 Drawing up and implementing a Plan of Treatment of Spinal Cord Injury, for the treatment against the spinal cord a national and international priority.

Finally, it should be noted that research in the field of regenerative spinal cord also contribute to the search for other neurological diseases such as Multiple sclerosis, amyotrophic lateral sclerosis, Parkinson’s and Alzheimer’s  disease..

know more about genetic defects

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The genetic defect is usually present in the first cell in the body, resulting from the fusion of a sperm and an egg, every cell in the body will have this anomaly. And gametes of the person (sperm or eggs) will have this information and transmit abnormal: it is hereditary. (However, some forms of cancer can be considered genetic diseases because in the genome of a cell in a particular organ, following an attack (by viruses, radiation or other origin often unknown), a mutation occurs in a gene that will be reproduced at the body and lead to cancer. In these cases, the disease is called somatic gene. It was acquired, it is not transferable and unsuccessful not a hereditary disease.)

Diseases can be classified according to their genetic transmission from parent to child.

Achondroplasia, Huntington’s chorea or St. Vitus’ Dance (6000 patients in France), myotonic dystrophy, muscular dystrophy, facio-scapulo-humeral (more than 2,500 people in France), oculopharyngeal muscular dystrophy ( more common in Canada than in France), disease brittle bone, the von Hippel-Lindau (3 people per 100,000), Marfan syndrome (10 to 12,000 people living in France) or Gardner’s syndrome, genetic diseases are transmitted on a “autosomal dominant”.

Friedreich ataxia, SCD = sickle cell anemia (about a baby in 6000), disease of children of the moon = Xeroderma pigmentosum, Wilson’s disease, phenylketonuria, progeria are genetic diseases passed on a “autosomal recessive. ” Cystic fibrosis is an autosomal recessive disease most common in Europe.

 Muscular dystrophy Duchenne muscular dystrophy, the fragile X syndrome, genetic diseases are transmitted on a “X-linked recessive.” Hemophilia A (a newborn male in 10,000 births) is the oldest genetic disease known, it is transmitted in this mode “X-linked recessive.” Albinism, X-linked disease can be transmitted over a recessive or dominant in the forms of albinism.
What does this mean?

A genetic disorder is autosomal gene linked to when the disease is located on a chromosome “autosome” (progeria chromosome 1, chromosome 3 for the von Hippel-Lindau, chromosome 4 for muscular dystrophy facio-scapulo-humeral chromosome 5 with Gardner’s syndrome and Sotos syndrome, chromosome 6 for hemochromatosis, cystic fibrosis to chromosome 7, chromosome 9 for Friedreich’s ataxia, chromosome 14 for oculopharyngeal muscular dystrophy, for chromosome 15 syndrome Marfan chromosome 19 for myotonic dystrophy …)

We say that a genetic disease is X-linked if the gene is located on the X sex chromosome

A genetic disease transmitted as an autosomal dominant trait implies a gene carried by a pair of autosomes, there may be several versions of this gene: each version is an allele. One allele is responsible for genetic disease, and only one of two chromosomes is this allele that the person is sick. When a parent is affected, it has an allele “disease” dominant M allele and a “healthy” recessive s. It has a risk of transmitting the allele 2 M and thus to have a sick child. If both parents are affected, everyone has the alleles M and S. In 3 / 4 cases, the child is sick (the father and mother passed M, M sends the father only, mother only sends M), and 1 / 4 of cases it will be in good health (both parents have transmitted the allele s).

A genetic disease transmitted as an autosomal recessive trait also implies a gene carried by a pair of autosomes, but it takes two chromosomes that carries the allele for the disease that the person is sick or it is masked by the allele “normal” and the person is healthy.

To a person has two alleles ‘disease’ m, it is necessary that both parents have the recessive allele on one of their chromosomes, one chromosome may have the allele “Health” dominating S: people with S allele and an allele m are in good health.

A genetic disease transmitted as recessive X-linked implies a gene carried by an X chromosome The disease affects differently the boys and girls: boys have only one X chromosome in each cell, transmitted by their mothers, while girls receive an X chromosome from each parent and each of their cells has therefore two X chromosomes

For boys, just as their X chromosome carries the allele “disease” to make them sick.

For girls, it is necessary that the two X chromosomes carries this allele to make them sick. If an X chromosome carries the allele “disease” allele and the other “health”, the girl will be healthy but has a 50% risk of transmitting the allele “disease” to her son if she has allele.

For some diseases, the three co-exist. For example in the case of muscular dystrophy Emery-Dreifuss muscular dystrophy slowly progressive that begin in childhood or adolescence, two main modes of transmission are: X-linked recessive and autosomal dominant. There are also very rare autosomal recessive forms.

The presence of cerebellar ataxia

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Many people not familiar with this disease. Far too rare to be well known, this disease has no antidote for the moment.

For this disease, it is necessary that both parents transmit the abnormality.
This disease is also called cerebellar atrophy by doctors in France.

“The gait ataxia of the extremities occurs between the second and fourth decade, the presence of cerebellar ataxia, which is characterized by dysarthria (difficulty articulating words) movements with an amplitude too large (the patient appears to be intoxicated) members tremors on one side during voluntary movements, corresponding to the reach half of the cerebellum an inability to perform rapid movements. The presence of an extrapyramidal syndrome characterized by: a Regular shaking that usually affects the ends of the upper limbs. We speak rather of movement fragmentation, accentuated when the patient is asked to focus, in particular by making a mental calculation. This tremor disappears when the patient performs movements in control of the will. parkinsonian akinesia: the neurological abnormality characterized by the scarcity of blinking of the eyelids associated with poorer mimicry.

In the parkinsonian syndrome, patients have a loss of arm swing when walking that s ‘performs slowly. hypertonia members qualified plastic and characterized by maintaining the position in which the member is placed after manipulation by the physician or the examiner. parkinsonian plastic hypertonia This must be differentiated from elastic hypertonia encountered in the pyramidal syndrome. Hypertonicity Parkinson is characterized by a predominance in the flexor muscles (biceps for example, is a flexor muscle: it allows to bring the palm of the hand to the shoulder). This tends to give the patient flexed attitude, leaning forward. difficulties in performing rapid alternating movements of an economy of gestures micrographic writing is (the patient trace lowercase letters) the words are expressed the same monotone in general, the stiffness will sell by a sudden mobilization of the limb. This makes the so-called phenomenon of gear. fasciculations of the tongue and face involuntary contractions of muscle bundles contained in a large muscle, in isolation compared to other bundles that neighborhood, they remain at rest. ophthalmoparesis A paralysis consisting of a slight decrease in opportunities for muscle contraction of the eyeball. ”

A drama was created in 2005 about the disease. This is the story of Aya Ikeuchi who gradually realizes his illness. One day she will fall head first at 100 meters from her house. From day to the parents of the girl 15 years know that it has the disease. Love, sadness and friendship in this drama: Ichi rittoru no namida, rather known as One Litter Of Tears. The soundtrack of this drama is incredibly touching grace Remioromen (Konayuki, 3 Gatsu 9 Ka) and K (Only Human).

It was created from a true story: “Ichi Rittoru No Namida”, written by Aya Kitou, who had the disease. “If I were a flower, I would be a bud.” She has the desire to succeed and tries to help his friend (e) s. Thinking it is actually clumsy, she began a contracted spinocerebellar atrophy (the same disease).

I takes you to read this book, even if it is not yet released in VF. It was published in VA (English) and VO (Japanese).

A genetic disorder is autosomal gene

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A genetic disorder is autosomal gene linked to when the disease is located on a chromosome “autosome” (progeria chromosome 1, chromosome 3 for the von Hippel-Lindau, chromosome 4 for muscular dystrophy facio-scapulo-humeral chromosome 5 with Gardner’s syndrome and Sotos syndrome, chromosome 6 for hemochromatosis, cystic fibrosis to chromosome 7, chromosome 9 for Friedreich’s ataxia, chromosome 14 for oculopharyngeal muscular dystrophy, for chromosome 15 syndrome Marfan chromosome 19 for myotonic dystrophy …)

We say that a cerebellar atrophy is X-linked if the gene is located on the X sex chromosome

A cerebellar atrophy transmitted as an autosomal dominant trait implies a gene carried by a pair of autosomes, there may be several versions of this gene: each version is an allele. One allele is responsible for cerebellar atrophy, and only one of two chromosomes is this allele that the person is sick. When a parent is affected, it has an allele “disease” dominant M allele and a “healthy” recessive s. It has a risk of transmitting the allele 2 M and thus to have a sick child. If both parents are affected, everyone has the alleles M and S. In 3 / 4 cases, the child is sick (the father and mother passed M, M sends the father only, mother only sends M), and 1 / 4 of cases it will be in good health (both parents have transmitted the allele s).

A cerebellar atrophy transmitted as an autosomal recessive trait also implies a gene carried by a pair of autosomes, but it takes two chromosomes that carries the allele for the disease that the person is sick or it is masked by the allele “normal” and the person is healthy.

To a person has two alleles ‘disease’ m, it is necessary that both parents have the recessive allele on one of their chromosomes, one chromosome may have the allele “Health” dominating S: people with S allele and an allele m are in good health.

A cerebellar atrophy transmitted as recessive X-linked implies a gene carried by an X chromosome The disease affects differently the boys and girls: boys have only one X chromosome in each cell, transmitted by their mothers, while girls receive an X chromosome from each parent and each of their cells has therefore two X chromosomes

For boys, just as their X chromosome carries the allele “disease” to make them sick.

For girls, it is necessary that the two X chromosomes carries this allele to make them sick. If an X chromosome carries the allele “disease” allele and the other “health”, the girl will be healthy but has a 50% risk of transmitting the allele “disease” to her son if she has a .

For some diseases, the three co-exist. For example in the case of muscular dystrophy Emery-Dreifuss muscular dystrophy slowly progressive that begin in childhood or adolescence, two main modes of transmission are: X-linked recessive and autosomal dominant. There are also very rare autosomal recessive forms.
What does this mean?

A genetic disorder is autosomal gene linked to when the disease is located on a chromosome “autosome” (progeria chromosome 1, chromosome 3 for the von Hippel-Lindau, chromosome 4 for muscular dystrophy facio-scapulo-humeral chromosome 5 with Gardner’s syndrome and Sotos syndrome, chromosome 6 for hemochromatosis, cystic fibrosis to chromosome 7, chromosome 9 for Friedreich’s ataxia, chromosome 14 for oculopharyngeal muscular dystrophy, for chromosome 15 syndrome Marfan chromosome 19 for myotonic dystrophy …)

We say that a genetic disease is X-linked if the gene is located on the X sex chromosome

A genetic disease transmitted as an autosomal dominant trait implies a gene carried by a pair of autosomes, there may be several versions of this gene: each version is an allele. One allele is responsible for genetic disease, and only one of two chromosomes is this allele that the person is sick. When a parent is affected, it has an allele “disease” dominant M allele and a “healthy” recessive s. It has a risk of transmitting the allele 2 M and thus to have a sick child. If both parents are affected, everyone has the alleles M and S. In 3 / 4 cases, the child is sick (the father and mother passed M, M sends the father only, mother only sends M), and 1 / 4 of cases it will be in good health (both parents have transmitted the allele s).

A genetic disease transmitted as an autosomal recessive trait also implies a gene carried by a pair of autosomes, but it takes two chromosomes that carries the allele for the disease that the person is sick or it is masked by the allele “normal” and the person is healthy.

To a person has two alleles ‘disease’ m, it is necessary that both parents have the recessive allele on one of their chromosomes, one chromosome may have the allele “Health” dominating S: people with S allele and an allele m are in good health.

A genetic disease transmitted as recessive X-linked implies a gene carried by an X chromosome The disease affects differently the boys and girls: boys have only one X chromosome in each cell, transmitted by their mothers, while girls receive an X chromosome from each parent and each of their cells has therefore two X chromosomes

For boys, just as their X chromosome carries the allele “disease” to make them sick.

For girls, it is necessary that the two X chromosomes carries this allele to make them sick. If an X chromosome carries the allele “disease” allele and the other “health”, the girl will be healthy but has a 50% risk of transmitting the allele “disease” to her son if she has a .

For some diseases, the three co-exist. For example in the case of muscular dystrophy Emery-Dreifuss muscular dystrophy slowly progressive that begin in childhood or adolescence, two main modes of transmission are: X-linked recessive and autosomal dominant. There are also very rare autosomal recessive forms.

From: Stem cell treatment