一个年轻的女性中脊髓小脑动症46
P R Sowmini1, Sivaroja Yellaturi1, S Sakthi Velayutham1
1Department of Neurology, Stanley Medical College, Chennai, Tamil Nadu, India.
Journal of neurosciences in rural practice
|December 7, 2023
概括
脊髓小脑缩46 (SCA 46) 是一种罕见的神经退行性疾病. 最近的发现将SCA 46与脂酶D 3基因的突变联系起来,从而进一步了解这种遗传性.
科学领域:
- 神经遗传学 神经遗传学
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- 脊髓小脑缩症 (SCAs) 包含各种神经退行性疾病,具有不同的遗传基础.
- SCA 46是一种罕见的自体主导性缺氧症,呈现出明显的临床特征,包括缺氧症和外围神经病变.
相关概念视频
01:43Sex-linked Disorders
Like autosomes, sex chromosomes contain a variety of genes necessary for normal body function. When a mutation in one of these genes results in biological deficits, the disorder is considered sex-linked.
01:29Nondisjunction
During meiosis, chromosomes occasionally separate improperly. This occurs due to failure of homologous chromosome separation during meiosis I or failed sister chromatid separation during meiosis II. In some species, notably plants, nondisjunction can result in an organism with an entire additional set of chromosomes, which is called polyploidy. In humans, nondisjunction can occur during male or female gametogenesis and the resulting gametes possess one too many or one too few chromosomes.