Jacobi H, Minnerop M, Klockgether T
Klinik und Poliklinik für Neurologie, Universitätsklinikum Bonn, Sigmund-Freud-Str. 25, 53105, Bonn, Deutschland.
Nervenarzt. 2013 Feb;84(2):137-42. doi: 10.1007/s00115-012-3637-z.
Spinocerebellar ataxias are genetically heterogeneous autosomal dominant ataxia disorders. To date more than 30 different subtypes are known. In Germany particularly SCA1, SCA2, SCA3 and SCA6 are prevalent, as well as the less frequent subtypes SCA5, SCA14, SCA15, SCA17 and SCA28. Genetic causes range from coding repeat expansions (polyglutamine diseases), to non-coding expansions as well as conventional mutations. In some subtypes the genetic background is currently unknown. Age of onset, typical clinical findings and geographic distribution may help to reach a correct diagnosis; however a definitive diagnosis requires molecular genetic testing.
脊髓小脑共济失调是具有遗传异质性的常染色体显性共济失调疾病。迄今为止，已知有30多种不同的亚型。在德国，特别常见的是脊髓小脑共济失调1型、2型、3型和6型，以及不太常见的亚型脊髓小脑共济失调5型、14型、15型、17型和28型。遗传病因包括编码重复扩增（多聚谷氨酰胺疾病）、非编码扩增以及传统突变。在某些亚型中，目前尚不清楚其遗传背景。发病年龄、典型临床表现和地理分布可能有助于做出正确诊断；然而，明确诊断需要进行分子遗传学检测。
