What is spinocerebellar Ataxia type 2? Spinocerebellar Ataxia type 2 (SCA12) is one specific type of Ataxia among a group of inherited diseases of the central nervous system. In SCA2, genetic defects lead to impairment of specific nerve fibers carrying messages to …

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.

2023年9月15日 · Spinocerebellar ataxia (SCA) is an inherited (autosomal dominant), progressive, neurodegenerative, and heterogeneous disease that mainly affects the cerebellum. SCA is a subset of hereditary cerebellar ataxia and is a rare disease.

2024年7月19日 · Type II—The most common type, generally begins between the ages of about 20 and 50 years of age, has an intermediate rate of progression, and causes various symptoms, including prominent ataxia, spastic gait, and enhanced reflex responses.

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.

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

Spinocerebellar ataxia (SCA) is a group of inherited brain disorders. The various types all cause issues with coordination and movement, which worsen over time. If you have SCA, talk to your healthcare provider about ways to relieve symptoms and improve function.

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.

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.

Spinocerebellar ataxia type 2 (SCA2) is among the most common forms of autosomal dominant ataxias, accounting for 15% of the total families. Occurrence is higher in specific populations such as the Cuban and Southern Italian.