Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. Explore symptoms, inheritance, genetics of this condition.

1998年10月23日 · Spinocerebellar ataxia type 2 (SCA2) is characterized by progressive cerebellar ataxia, including nystagmus, slow saccadic eye movements, and in some individuals, ophthalmoparesis or parkinsonism. Pyramidal findings are present; deep tendon reflexes are brisk early on and absent later in the course.

2022年8月29日 · Spinocerebellar ataxia (SCA) comprises more than 40 types of similar inherited brain disorders. SCA affects your cerebellum, a part of your brain vital to physical movement. It causes problems with coordination and movement. There’s no cure, so treatment aims to relieve symptoms and improve function. What is spinocerebellar ataxia?

SCA2 is caused by a genetic mutation that is passed on from parents to their children. In SCA2, the impairment of nerve cells and nerve fibers causes degeneration of the cerebellum (the coordination center of the brain) and related brain regions.

Spinocerebellar ataxia (SCA) is a progressive, degenerative, [1] genetic disease with multiple types, each of which could be considered a neurological condition in its own right. An estimated 150,000 people in the United States have a diagnosis of spinocerebellar ataxia at any given time.

Spinocerebellar ataxia 2 (SCA2) is a progressive disorder that causes symptoms including uncoordinated movement (ataxia), speech and swallowing difficulties, muscle wasting, slow eye movement, and sometimes dementia.

What are the symptoms of SCA2? SCA2 is very similar to SCA1 and SCA3 in that the first symptom is usually Ataxia—incoordination of the hands and trouble with balance when walking. (The word ataxia means incoordination.) However, in addition to Ataxia, early symptoms of SCA2 often include neuropathy (loss of feeling and reflexes) and

2024年7月19日 · SCA2 (also known as olivopontocerebellar atrophy) involves vision problems, eye muscle control, and degeneration of the retina (the light-sensing part of the eye). Additional symptoms may include peripheral neuropathy, tremor, muscle wasting (atrophy), and brief, unplanned twitching of a muscle or group of muscles (myoclonus).

2025年1月27日 · ATXN2 repeat alleles cover the range from recessive and dominant mendelian alleles to risk alleles for amyotrophic lateral sclerosis. We review studies aimed at defining the normal function of ATXN2 and mutant ATXN2 using cellular and mouse models.

Longer expansions can cause spinocerebellar ataxia type 2 (SCA2), a fatal progressive genetic disorder in which neurons degenerate in the cerebellum, inferior olive, pons, and other areas. Symptoms of SCA2 include ataxia (a loss of coordinated movements), parkinsonism , and dementia in some cases. [ 11 ]