Bay Biosciences provides high quality, clinical grade bio-samples, cryogenically preserved tissue, sera (serum), plasma and peripheral blood mononuclear cells (PBMC) biofluid specimens from patients diagnosed with Spinocerebellar Ataxia (SCA).
The sera (serum), plasma and PBMC biofluid samples are processed from patient’s peripheral whole-blood using customized collection and processing protocols. The Spinocerebellar Ataxia (SCA) bio-specimens are collected from unique patients diagnosed with Spinocerebellar Ataxia (SCA) and are provided to a valued pharmaceutical customer for translational research, genomics, proteomics and biomarker research, drug discovery and development.
Ataxia Disease Overview
Ataxia is a degenerative disease affecting the nervous system, presenting poor coordination and movement, gait abnormality difficulties with speech, walking, fine motor functions, swallowing, and vision including abnormalities in eye movements. It mainly affects people over 18 (adult-onset).
Ataxia is a clinical manifestation indicating dysfunction of the parts of the nervous system. Persistent ataxia usually results from damage to the part of the brain that controls muscle coordination (cerebellum). Ataxia can be limited to one side of the body, which is referred to as hemiataxia. Several possible causes exist for these patterns of neurological dysfunction. Many conditions can cause ataxia, including alcohol misuse, certain medication, stroke, tumor, cerebral palsy, brain degeneration and multiple sclerosis. Inherited defective genes also can cause the condition.
Spinocerebellar Ataxia (SCA)
Spinocerebellar Ataxia (SCA) is a form of hereditary, progressive ataxia with more than 20 identified types sharing similar symptoms. There is currently no treatment or cure to slow the progression of spinocerebellar ataxia. Spinocerebellar Ataxia is a hereditary form of ataxia affecting people from age 25 to 80, and is characterized by:
- Problems with balance and coordination
- Dysarthria (slurred and slow speech)
- Dysphagia (difficulty swallowing)
- Cramps and muscle stiffness
- Peripheral neuropathy (loss of feeling in hands and feet)
- Memory loss
- Slow eye movement
- Incontinence (reduced bladder control)
Spinocerebellar Ataxia (SCA) Causes
The cause of Spinocerebellar Ataxia (SCA) is atrophy of the cerebellum, as seen in other forms of ataxia. Onset of spinocerebellar ataxia is generally after the age of 18 and progresses slowly, with symptoms worsening over a period of years. Some types of SCA can progress more quickly.
SCA can be inherited in an autosomal dominant fashion. Symptoms can become present from just one mutated copy of the responsible gene in each cell, but some cases are caused by trinucleotide repeat expansions, where a section of DNA is repeated many times. These repeats do not always cause problems. Often, the higher the number of repeats, the earlier the onset and worse the symptoms will be.
Damage, degeneration or loss of nerve cells in the part of the brain that controls muscle coordination (cerebellum), results in ataxia. The cerebellum comprises two portions of folded tissue situated at the base of the brain near the brainstem. This area of the brain helps with balance as well as eye movements, swallowing and speech.
Diseases that damage the spinal cord and peripheral nerves that connect the cerebellum to the muscles also can cause ataxia. Ataxia causes include:
- Head Trauma: Damage to the brain or spinal cord from a blow to your head, such as might occur in a car accident, can cause acute cerebellar ataxia, which comes on suddenly.
- Stroke: Either a blockage or bleeding in the brain can cause ataxia. When the blood supply to a part of the brain is interrupted or severely reduced, depriving brain tissue of oxygen and nutrients, brain cells die.
- Cerebral Palsy: This is a general term for a group of disorders caused by damage to a child’s brain during early development, before, during or shortly after birth that affects the child’s ability to coordinate body movements.
- Autoimmune Diseases: Multiple sclerosis, sarcoidosis, celiac disease and other autoimmune conditions can also cause ataxia.
- Infections: Ataxia can be an uncommon complication of chickenpox and other viral infections such as HIV and Lyme disease. It might appear in the healing stages of the infection and last for days or weeks.
- Paraneoplastic Syndromes: These are rare, degenerative disorders triggered by the immune system’s response to a cancerous tumor (neoplasm), most commonly from lung, ovarian, breast or lymphatic cancer. Ataxia can appear months or years before the cancer is diagnosed.
- Abnormalities in the brain: An infected area (abscess) in the brain may cause ataxia. A growth on the brain, cancerous (malignant) or noncancerous (benign), can damage the cerebellum.
- Toxic Reaction: Ataxia is a potential side effect of certain medications, especially barbiturates, such as phenobarbital; sedatives, such as benzodiazepines; antiepileptic drugs, such as phenytoin; and some types of chemotherapy. Vitamin B-6 toxicity also may cause ataxia. These causes are important to identify because the effects are often reversible. Also, some medications can cause problems as you age, so patients might need to reduce the dose or discontinue the medication. Alcohol and drug intoxication; heavy metal poisoning, such as from lead or mercury; and solvent poisoning, such as from paint thinner, also can cause ataxia.
- Vitamin E, vitamin B-12 or thiamine deficiency: Not getting enough of these nutrients, because of the inability to absorb enough, alcohol abuse or other reasons, can lead to ataxia.
- Thyroid problems: Hypothyroidism and hypoparathyroidism can cause ataxia.
- COVID-19 Virus- This virus may cause ataxia, most commonly in very severe cases.
Spinocerebellar Ataxia (SCA) Symptoms
Clinical features different to the other forms of ataxia include several non-cerebellar features, including:
- Parkinsonism
- Chorea (involuntary movement disorder)
- Cognitive impairment
- Peripheral neuropathy
- Seizures
Spinocerebellar Ataxia (SCA) Diagnosis
Ataxia is diagnosed through methods including medical history, family history, blood tests to rule out other conditions presenting similar symptoms, and neurological evaluations. 12 types of ataxia, Friedrich’s ataxia and a number of others have genetic blood tests to aid diagnosis; however, some forms of SCA cannot be precisely diagnosed as they have not been genetically identified. In Spinocerebellar Ataxia (SCA), this makes up about 25% to 40% of cases. As there is an overlap in symptoms between the different types of Spinocerebellar Ataxia (SCA), genetic testing can be used to concretely diagnose the type of SCA affecting a patient. In these cases, neurological examinations that may include MRI scans of the brain and spine may be used to diagnose SCA.
Spinocerebellar Ataxia (SCA) Treatment
There is currently no treatment or cure to slow or stop the progression of SCA or the damage to the cerebellum. Patients work closely with a neurologist to develop a personal plan to deal with the symptoms of ataxia, which can include speech therapy, occupational therapy, and physical therapy. Medication can be given in conjunction with therapy to help symptom management.
Detailed clinical data, CT, MRI scans, cerebrospinal fluid/blood analysis, elevated biomarker levels, genetic and metabolic information, histopathological findings, annotations associated with the Spinocerebellar Ataxia (SCA) patient’s specimens is provided to a valued customer for research, development and drug discovery. The Spinocerebellar Ataxia (SCA) sera (serum), plasma and PBMC biofluid samples are processed from patients peripheral whole-blood using customized processing protocols provided by the researcher.
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