New mutation responsible for spinocerebellar ataxia identified

Using the genetic information of two different families with three generations of disease, researchers have identified a new mutation responsible for a degenerative and ultimately fatal movement disorder. Through induced pluripotent stem cell techniques, researchers also grew neurons from one patient in the laboratory to be used in future experiments.

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Causes and diagnosis of Ataxia

Ataxia can be caused by hereditary factors, acquired conditions, toxic exposures, vitamin deficiencies, autoimmune diseases, or unknown reasons. The diagnosis of ataxia involves a detailed medical history, physical examination, neurological assessments, and diagnostic tests like blood tests, imaging studies, genetic testing, and sometimes biopsies. These evaluations are crucial for determining the underlying cause of ataxia and guiding appropriate treatment approaches.

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Types, symptoms and treatment of Ataxia

Ataxia is a neurological condition that affects a person’s coordination, balance, and ability to perform voluntary movements precisely. It is caused by damage or degeneration of the cerebellum or its connections to other parts of the brain or spinal cord, resulting in symptoms such as unsteady gait, slurred speech, and difficulty with fine motor skills. Ataxia can be hereditary or acquired, and management depends on the underlying cause.

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What is Ataxia?

Ataxia is a neurological disorder characterized by a lack of coordination and impaired balance. It is a clinical term used to describe a group of conditions that affect the coordination and control of voluntary movements, including the movement of muscles necessary for maintaining balance, posture, and skilled movements.

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What is cerebral palsy?

Cerebral palsy (CP) is a complex group of neurological disorders that can have a profound impact on an individual’s life. The condition is caused by damage to the developing brain, which can occur before, during, or after birth. The damage affects the part of the brain that controls movement and muscle coordination, resulting in difficulties with movement, posture, and sometimes even speech and communication.

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