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Cerebellar Ataxia

Cerebral Ataxia
  – An Overview
The word "ataxia" in English comes from the Ancient Greek word ataksia meaning “disorder” which means “loss of coordination”.
Cerebral Ataxia is a lack of muscle coordination which may affect voluntary movements, fine hand movements, speech, eye movements, swallowing, walking. People with ataxia have problems with coordination because parts of the nervous system that control movement and balance are affected. A person with persistent ataxia will generally have damage in the part of the brain that controls muscle coordination - the cerebellum. Further diseases that damage the spinal cord and peripheral nerves that connect the cerebellum to the muscles may also lead to ataxia.
Cerebral Ataxia Causes:-
 Inherited ataxia is caused by a genetic fault passed from either the mother or father, or both. A faulty gene that is passed down through generations that causes cerebellar ataxia. The commonly seen types in this category include Spinocerebellar ataxia (SCA) and Friedreich’s ataxia (FRDA) of which the former is autosomal dominant (one parent carrying the defective gene) and the latter is autosomal recessive (both parents carrying the faulty gene).
Even without a family history of ataxia some people may still develop the condition.  This could be due to a head injury, alcohol abuse, drug abuse, viral infections, multiple sclerosis, cerebral palsy and some other neurological conditions.
Cerebral Ataxia Symptoms

  • Poor limb coordination.
  • Problems with balance.
  • Tremors - parts of the body may shake or tremble unintentionally.
  • Walking difficulties - in severe cases the patient may need a wheelchair.
  • Slurred and slow speech that is difficult to produce.
  • Swallowing difficulties, this may sometimes result in choking or coughing.
  • Facial expressions become less apparent.
  • Involuntary rapid rhythmic repetitious eye movement.
  • Vision problems.
  • Hearing problems.

Diagnosis of ataxia is based on a person's medical history, family history, and a complete neurological evaluation including some neruoimaging investigations such as an MRI (Magnetic Resonance Imaging) scan of the brain. Certain advanced imaging such as PET-CT Scan (Positron Emission Tomography – Computed Tomography) that helps to determine functionality of brain tissues may also be advised. Various blood tests may be performed to rule out other possible disorders which may present similar symptoms. Genetic tests are now available for some types of hereditary ataxia to confirm a diagnosis or as a predictive test to determine if someone has inherited an ataxia gene known to affect other family members.
The treatment for ataxia can vary depending upon the type of ataxia. Currently, no medications are available to treat the underlying cause of the condition. However, several ways and means are available to relieve the patient of their symptoms.
Ataxia patients are generally provided with a multidisciplinary approach for their care. This generally includes a combination of medications, rehabilitation and the use of adaptive devices if necessary. The rehabilitation program used for ataxia includes the following:-

  • Physiotherapy includes coordination exercises involving equilibrium and non equilibrium exercises to improve the balance and coordination. Gait training, fine and gross motor training is also a part of the therapy session.  
  • Occupational Therapy - occupational therapy  aims to teach functional activities for daily livings, transfer and independent use of wheelchair and other mobility aids.
  • Speech and Language Therapy focuses on slurred speech (dysarthria) and swallowing problems (dysphagia). Facial, tongue exercises are used to train for better speech and swallowing.
  • Certain adaptive devices such as canes for walking, modified utensils for eating, speaking aids may also be recommended.

Supportive interventions such as education about the disease itself, genetic counseling, individual and family counseling, referral to support groups and advocacy groups, and guidance to online resources should be provided to the patients. This helps build their confidence and promotes their overall development.

  • Stem Cell Therapy in Ataxia
  • An upcoming branch of advanced medication which can help to reduce the symptoms of ataxia is Regenerative medicine. Its main objective is to restore function of the affected organ. Regenerative Medicine use stem cells to generate living tissues to renew and repair tissues affected with age, disease and congenital defects. Stem cells get to the root cause of the problem and restore newer cells and tissues. Studies have shown that stem cells migrate to the site of injury from the site of injection. It has been observed that there is improvement in the neurological function following cell therapy. Stem cells work by enhancing angiogenesis or boost the supply of blood in damaged tissues which in turn help in their process of repairing. It also releases growth factors that have a curative and regenerative effect on the tissues. They impart immunomodulatory and anti-inflammatory effects. Reduction of Vascular Endothelial Growth Factor (VEGF) levels is observed in Spino Cerebellar Ataxia which contributes to its pathology. Stem cells may regulate the levels of VEGF.  These factors altogether enhances tissue perfusion and may help alleviate the disease pathology.
    After the cellular therapy, patient under goes neuro rehabilitation, a multidisciplinary rehabilitation protocol including physiotherapy, occupational therapy, speech therapy, psychological counseling, yoga and dietary advice based on the patients need.
    In a progressively deteriorating condition like cerebellar ataxia, Stem Cell therapy offers a new promise as an interventional modality and as a future premise in the area of cellular research. However, many aspects of this intervention need to be analyzed in detail to optimize the outcome. Types of cells, dosage, number of interventions, timing of intervention, etc need to be considered before the transplant.
    Clinical results of Cell Therapy at NeuroGen Brain and Spine Institute:-
    The effect of autologous bone marrow mononuclear cells in 60 cases of cerebellar ataxia showed 92% improvement in overall symptoms.(figure.1) Symptoms improved were

    • Ambulation,
    • Hand functions,
    • Balance,
    • Stamina/fatigue
    • Trunk balance and
    • Standing.

    There was marked improvement in PET CT scan brain of patients (figure.2).



    NeuroGen Brain & Spine Institute, Stem Asia Hospital & Research Centre, Plot no. 19, Sector 40, Next to SeaWoods Grand, Central Station (W), Opp.Konkan Rail Vihar,Off. Palmbeach Road, Nerul (West), Navi Mumbai – 400706. India.

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