Charcot Marie Tooth Disease Symptoms
Published on Apr 12 2010, in the categories: Charcot Marie
A group of researchers from the Dulbecco Telethon Institute San Raffaele in Milan identified with certainty in which cells of the nervous system originates from the defect that triggers the symptoms of a particular form of Charcot-Marie-Tooth disease 4B1.
Thanks to the work, published in the Journal of Neuroscience, Alessandra Bolino and her colleagues, the disease, which together with other forms of neuropathy, is inherited more frequent peripheral nervous system affecting approximately 1 in 2,500 people.
The discovery of cells in the source of the disease (in its recessive form is essential information to proceed with the development of a therapy.
The disease originates in Schwann cells, those that produce myelin, the insulating sheath that covers nerves, and are aligned along the nerves themselves, wrap, allowing the fast transmission of the electrical connections.
The question was between two cell types: motor neurons - nerve cells in the spinal cord that transmit commands to the muscles - and Schwann cells, in fact. Analyzing what happens to sick nerves of mice with Charcot-Marie-Tooth disease type 4B1, an animal model widely used and studied by the researchers themselves, the team and managed to trace the cause of the fault and see what kind of nerve cell that defect had origin.
The goal was made possible by a sophisticated technique that eliminates the gene causing the disease only in specific cell types, thus excluding the other candidates.
The Charcot Marie Tooth disease symptoms are weakness, reduced sensitivity and underdeveloped muscles of legs and feet, there is lack of an enzyme called MTMR2. ''The fact that the head of the symptoms of Charcot-Marie-Tooth type 4B1 is an enzyme, will facilitate therapeutic approach now that you know the real target, because given the missing enzyme to affected cells and 'relatively simple,''said Alessandra Bolino.
Research funding (which has collaborated Laura Felt, Stefano Previtali, and Lawrence Wrabetz), contributed the Compagnia di San Paolo and SMA supermarkets that have adopted the project.
The Charcot Marie Tooth is a disease much more widespread than what has always believed and the traditional relationship of 1 per 2500 people affection no longer seems to correspond to reality. It is a progressive syndrome, meaning that worsens over time, even if it is a very slow progression and that the conditions of the patient remain stationary for long periods. In case you were present at onset of Charcot Marie Tooth disease symptoms progressing fast, probably could be a neuropathy in inflammatory, but only the examination of cerebrospinal fluid may determine.
Charcot Marie Tooth disease affects the peripheral nervous system. That affects the nerve endings that affect the feet, legs (from knee down), hands, and arms (from elbow down). Only we can rarely find problems even hearing, vision, the vocal chords and more frequently, the spine.
Are not always affected the functions of both upper and lower limbs, or better, even if the neurological deficit is highlighted throughout the peripheral system, we have obvious symptoms and not only in walking in the manual functions (almost never vice versa).
It is important to remember that there are, to date, scientific studies on the symptoms of Charcot Marie Tooth disease and, therefore, are not yet available statistical data on this. One reason is the main characteristic of this syndrome, i.e. its variability in hitting people, even within the same family, both in terms of symptoms, and both for the severity level.
Thanks to the work, published in the Journal of Neuroscience, Alessandra Bolino and her colleagues, the disease, which together with other forms of neuropathy, is inherited more frequent peripheral nervous system affecting approximately 1 in 2,500 people.
The discovery of cells in the source of the disease (in its recessive form is essential information to proceed with the development of a therapy.
The disease originates in Schwann cells, those that produce myelin, the insulating sheath that covers nerves, and are aligned along the nerves themselves, wrap, allowing the fast transmission of the electrical connections.
The question was between two cell types: motor neurons - nerve cells in the spinal cord that transmit commands to the muscles - and Schwann cells, in fact. Analyzing what happens to sick nerves of mice with Charcot-Marie-Tooth disease type 4B1, an animal model widely used and studied by the researchers themselves, the team and managed to trace the cause of the fault and see what kind of nerve cell that defect had origin.
The goal was made possible by a sophisticated technique that eliminates the gene causing the disease only in specific cell types, thus excluding the other candidates.
The Charcot Marie Tooth disease symptoms are weakness, reduced sensitivity and underdeveloped muscles of legs and feet, there is lack of an enzyme called MTMR2. ''The fact that the head of the symptoms of Charcot-Marie-Tooth type 4B1 is an enzyme, will facilitate therapeutic approach now that you know the real target, because given the missing enzyme to affected cells and 'relatively simple,''said Alessandra Bolino.
Research funding (which has collaborated Laura Felt, Stefano Previtali, and Lawrence Wrabetz), contributed the Compagnia di San Paolo and SMA supermarkets that have adopted the project.
The Charcot Marie Tooth is a disease much more widespread than what has always believed and the traditional relationship of 1 per 2500 people affection no longer seems to correspond to reality. It is a progressive syndrome, meaning that worsens over time, even if it is a very slow progression and that the conditions of the patient remain stationary for long periods. In case you were present at onset of Charcot Marie Tooth disease symptoms progressing fast, probably could be a neuropathy in inflammatory, but only the examination of cerebrospinal fluid may determine.
Charcot Marie Tooth disease affects the peripheral nervous system. That affects the nerve endings that affect the feet, legs (from knee down), hands, and arms (from elbow down). Only we can rarely find problems even hearing, vision, the vocal chords and more frequently, the spine.
Are not always affected the functions of both upper and lower limbs, or better, even if the neurological deficit is highlighted throughout the peripheral system, we have obvious symptoms and not only in walking in the manual functions (almost never vice versa).
It is important to remember that there are, to date, scientific studies on the symptoms of Charcot Marie Tooth disease and, therefore, are not yet available statistical data on this. One reason is the main characteristic of this syndrome, i.e. its variability in hitting people, even within the same family, both in terms of symptoms, and both for the severity level.
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