Ataxia in history
Since the nineteenth century, ataxia was considered a common symptom of many neurological diseases; only around the middle of the twentieth century it was recognized as a kinetic disorder in its own right. Starting from those years, science and research have evolved, as well as the improvement of diagnostic strategies aimed at identifying the ataxic syndrome and the causes that reside there; unfortunately, there are no targeted therapies capable of completely resolving ataxia, since it is a disorder that irreversibly damages brain neuronal centers. However, there are therapies useful for monitoring symptoms and neuromotor rehabilitation techniques for degenerative ataxias.
Diagnosis
The diagnosis of ataxia is mainly clinical and symptomatic: the doctor visits the patient, observes the symptoms and investigates the family history of the same. In this way, the specialist can draw up an initial general diagnosis of the ataxic patient.
The diagnosis consists of the so-called Romberg maneuver : the patient, with his eyes closed and his upright posture, must join his toes and remain still. The doctor observes the patient's possible movements: if the patient tends to immediately open his eyes and fall, a cerebellar-type ataxia can be hypothesized. On the other hand, when the patient with his eyes closed tends to swing and fall anyway, the most plausible hypothesis is that the subject is suffering from diseases of the ear labyrinth or a lesion is in progress at the level of the posterior cords [taken from www.atassia .it].
Another simple diagnostic test performed by the doctor is as follows: the patient, in an upright position, must first extend his arm, then touch the tip of his nose with his index finger. An ataxia patient is unable to perform this simple action: generally, the patient's finger hits the cheek or another part of the face. In some cases, the action is successful, but the ataxic patient uses an evident effort and a known uncertainty during the movement.
The clinical diagnosis (in particular, for Friedreich's ataxia) can be confirmed by a possible molecular test : in general, the transmission of nerve signals is normal or, in other cases, only slightly slowed, unlike, instead, of action potentials of the sensitive type, in which the damage is very evident (they are very reduced or even absent). Again, brain and auditory trunk potentials degenerate and become damaged as the ataxic disease progresses.
Other useful diagnostic tools are:
- CT (computed tomography);
- MRI (or magnetic resonance, sagittal study with images) useful for investigating a possible decrease in cervical-spinal volume;
- SPECT (Single Photon Emission Computed Tomography: diagnostic strategy used in the investigation of late-onset idiopathic cerebellar ataxia to hypothesize a possible progression of the pathology).
[taken from pediatric neurology, by Di Lorenzo Pavone, Martino Ruggieri]
Care
At the moment, there is no effective pharmacological therapy in neurological-muscular ataxias: in this regard, rather than talking about actual therapies, rehabilitation should be understood, which has the objectives of restoring motor alterations, monitoring pathological kinetic movements and, above all, to increase the patient's self-sufficiency and self-esteem. It is the neurologists, physiatrists and orthopedists, the three figures of reference for ataxic patients who do not want to stop fighting and who are driven by the desire to overcome the disease, or who aspire at least to interfere with the degenerative evolution of the same . With physical exercise and willpower, the quality of life of the ataxic patient can be better, thanks to the improvement of motor performance and coordination of movement.
Future expectations
Friedreich's ataxia represents an ataxic form triggered by a deficiency of frataxin (mitochondrial protein), whose cause lies in the mutation of a gene. Frataxin deficiency causes inevitable neuronal degeneration (spino-cellular ataxia). Furthermore, the lack of this important protein causes hypersensitivity to oxidative stress, which in turn is caused by an accumulation of mitochondrial iron, especially in the heart.
This brief introduction is necessary to understand why some innovative therapeutic strategies have been hypothesized, based on the administration of iron chelators and antioxidants . It should be pointed out that these therapies can be useful in modulating symptoms, so they could hypothetically improve the patient's living conditions, even in a clear manner; however, neither the administration of antioxidants, nor the intake of iron chelating substances are able to permanently heal the patient from ataxia.
