NEW FORM OF HEREDITARY ATAXIA - INBORN X- LINKED CEREBELLAR HYPOPLASIA (CLINICAL AND MOLECULAR-GENETIC ANALYSIS)

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 establishe d. Clinical syndrome was characterized by delay of motor development d uring the first year of child's living as well as by ataxia, dysarthri a, external ophtalmoplegia and nonprogressive course too. The signs of pronounced hypoplasia of hemispheres and vermis were found by means o f computer and magneto-resonance investigation. Molecular genetic stud y (linkage-analysis) revealed that the gene of the disease was localiz ed in proximal part of long X-chromosome's shoulder, exactly in XpII 2 1-q24 interval (38 santimorgan genetic distance). That was the first e xample of successful genetic mapping of the disease from the group of hereditary cerebellar hypoplasias.