Evaluation of the Effects of Calcitriol's in the Neurological Symptoms of Friedreich's Ataxia Patients

SARA is a scale which assesses a range of different impairments in cerebellar ataxia. The scale is made up of 8 items related to gait, stance, sitting, speech, finger-chase test, nose-finger test, fast alternating movements and heel-shin test.

The eight categories have an accumulative score ranging from 0 (no ataxia) to 40 (most severe ataxia).

When completing the outcome measure each category is assessed and scored accordingly. Scores for the eight items range as follows:

• Gait (0-8 points),
• Stance (0-6 points),
• Sitting (0-4 points)
• Speech disturbance (0-6 points)
• Finger chase (0-4 points)
• Nose-finger test (0-4 points)
• Fast alternating hand movement (0-4 points)
• Heel-shin slide (0-4 points) Once each of the 8 categories have been assessed, the total is calculated to determine the severity of ataxia.

The 9-Hole Peg test is a quantitative assessment used to measure fingir dexterity.

It is administered by asking the participant to take de pegs from a container, one by one, and place them into the holes on the boward, as quickly as possible. Participants must then remove the pegs from the holes, one by one, and replace them back into the container. The board should be placed at the client's midline, with the container holding the pegs oriented towards the hand being tested.

Only the hand being evaluated should perform the test. Hand not being evaluated is permitted to hold the edge of the board in order to provide stability. Both hands will be assessed.

Scores are recorded in seconds and are based on the time taken to complete the test activity, scoring better when less seconds are required to complete de test. Stopwatch should be started from the moment the participant touches the first peg until the moment the last peg hits the container.

The 8 meters waking test is used to asses walking speed in over a short distance of 8 meters. It is administered by asking the participant to walk through an 8 meteres lenght stright line as faster as posible.

Scores are recorded in seconds and are based on the time taken to complete the test activity, scoring better when less seconds are required to complete de test.

Stopwatch should be started from the moment the participant starts to walk until he reaches the final of the stright line.

PATA Rate Task is a quantitative test used to measure the severity of dysarthria.

Participants are invited to repeat the syllables "PA-TA" as quickly as possible during a 10 seconds interval. They will do the same test twice, being the final score the average of the two attempts.

The score consists in the number of correct repetition of both syllables, scoring better when they are able to say more correct repetitions of the syllables.

Barthel index is an objective, standardized tool for measuring functional status. The individual is scored in a number of areas depending upon independence of performance.

The ten variables measured in the Barthel scale are:

• Presence or absence of fecal incontinence
• Presence or absence of urinary incontinence
• Help needed with grooming
• Help needed with toilet use
• Help needed with feeding
• Help needed with transfers (e.g. from chair to bed)
• Help needed with walking
• Help needed with dressing
• Help needed with climbing stairs
• Help needed with bathing The total score range from 0, that is equivalent to complete dependence, to 100, that is equivalent to complete independence.

The SF-36 questionnaire is a qualitiy life teast to assess the quality of life. It contains 36 questions that address different aspects related to the daily life of the person who fills in the questionnaire.

These questions are grouped and measured in 8 sections that are evaluated independently. The 8 dimensions included in each section are:

• Physical functioning.
• Limitations due to physical problems.
• Body pain.
• Social functioning.
• Mental health.
• Limitations due to emotional problems.
• Vitality, energy or fatigue.
• General perception of health. The questionnaire questions ask for answers related to the previous month. The scores for each of the 8 dimensions of the SF-36 range between the values 0 and 100, with 100 being a result that indicates optimal health and 0 would reflect a very poor state of health.

In FA patients will be done blood analysis to monitor de Frataxin's levels.

To validate the Frataxin's levels measurement a blood analysis will also be done in two kind of controls for every FA patient:

• One heterozygous FA control (a close relative of the patient, either an heterozygous sibling or one of the parents).
• One age- and gender-matched control, supposedly non-heterozygous. The controls should not have any neurological or related with Calcium metabolism disease, or should not be under treatment with Calcium or D Vitamin.

In the hypercalcemia symptom's questionnaire the following items are asked and answered with a "yes" or "no" answer:

• The development or presence of headache.
• The development or presence of nausea.
• The development or presence of abdominal pain.
• The development or presence of polyuria.
• The development or presence of a skin rash. When one or more questions are answered with a "Yes" means that may exist a side effect due the Calcitriol treament.

The ECG is an electrical record of the function of the heart. It is used a 12-lead ECG, placed in the chest and arms and leds, that detect the small electrical changes that are a consequence of cardíac muscle depolarization followed by repolarization during each cardíac cycle (heartbeat).

It is recorded the heartrate, the P wave lenght, the QRS complex lenght and form and the QT interval. The shortening of the QT interval, measured in seconds, indicates a electrocardiographyc alteration due an hypercalcemia.

The blood test is a laboratory analysis performed on a blood sample that usually is extracted from a vein in the arm using a hypodermic needle. Different measures can be obtained from a single blood test. In order to assess de hypercalcemia risk there are analyzed the levels of Calcium, 1-25-dihydroxi-Colecalciferol, Phosphorus, Albumin, Proteins, Creatinine, Urea, Sodium and Potassium.

The measurament that indicates an hypercalcemia risk are:

• Calcium levels > 10.2 mg/dl. The Albumin and Proteins analysis is needed for the measurement of Calcium level.
• 1-25-dihydroxi-Colecalciferol levels > 100 ng/ml
• Phosphorus levels > 4.5 mg/dl

The hypercalcemia risk is higher when coexists a renal insufficiency. The measuramenst that indicates a renal insufficiency are:

• Creatinine > 1.2 mg/dl
• Urea > 48.5 mg/dl
• Sodium > 145 mEq/L
• Potassium > 5.1 mEq/L