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

SCA2 is one of the more common types of Spinocerebellar Ataxias. SCA2 is about twice as common as SCA1 which appears in approximately 1 to 2 people in 100,000. (The ratio varies based on geographical location and ethnic background.) Overall, it accounts for about 13 percent of the autosomal dominant Cerebellar Ataxias.

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. SCA2 is caused by genetic changes in the ATXN2 gene and is inherited in an autosomal dominant manner.

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).

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

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited, neurodegenerative disease. It can manifest either with a cerebellar syndrome or as Parkinson's syndrome, while later stages involve mainly brainstem, spinal cord and thalamus.

Spinocerebellar ataxia type 2 (SCA2) represents a genetic disorder with an autosomal dominant inheritance caused by a CAG expansion in the ubiquitously expressed ATXN2 gene encoding the polyglutamine (polyQ)-expanded ataxin-2 protein [1 – 5].

SCA是最常见的常染色体显性遗传性共济失调（ADCAs），目前倾向于根据遗传位点对SCA进行分类，每种亚型都被命名为SCAn（n依照致病基因或位点发现的时间顺序递进），目前已发现超过40种亚型。 根据基因的突变类型，可将SCA分为两类： 重复扩展型SCA，此类又可分为 多聚谷酰胺SCA （即由翻译区CAG动态重复突变引起，又称翻译区重复扩展型SCA）、 非翻译区重复扩展型SCA。 多聚谷酰胺SCA包括SCA1、SCA2、SCA3、SCA6、SCA7、SCA17、齿状核—红 …

Spinocerebellar ataxia type 2 (SCA2) is a condition characterized by progressive problems with movement. People with this condition initially experience problems with coordination and …

2019年2月14日 · Clinical characteristics: 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.