Illarioshkin S N, Ivanova-Smolenskaia I A, Markova E D, Nikol'skaia N N, Tsudzi S
Zh Nevrol Psikhiatr Im S S Korsakova. 1997;97(10):17-23.
There was performed the examination of a family with innate cerebellar hypoplasia. The disease was manifested in 7 males from 3 generations. X-linked recessive type of transmission of mutant gene was established. Clinical syndrome was characterized by delay of motor development during the first year of child's living as well as by ataxia, dysarthria, external ophthalmoplegia and nonprogressive course too. The signs of pronounced hypoplasia of hemispheres and vermis were found by means of computer and magneto-resonance investigation. Molecular genetic study (linkage-analysis) revealed that the gene of the disease was localized in proximal part of long X-chromosome's shoulder, exactly in XpII 21-q24 interval (38 centimorgan genetic distance). That was the first example of successful genetic mapping of the disease from the group of hereditary cerebellar hypoplasias.
对一个患有先天性小脑发育不全的家族进行了检查。该疾病在3代中的7名男性中表现出来。确定了突变基因的X连锁隐性遗传类型。临床综合征的特征是儿童出生后第一年运动发育迟缓，以及共济失调、构音障碍、外眼肌麻痹，且病程为非进行性。通过计算机和磁共振检查发现了半球和蚓部明显发育不全的迹象。分子遗传学研究（连锁分析）表明，该疾病的基因位于X染色体长臂近端，确切地说是在XpII 21-q24区间（遗传距离为38厘摩）。这是遗传性小脑发育不全组疾病成功进行基因定位的首个实例。
