RP has been clinically diagnosed in 32 members of a five-generation family of 111 persons, aged 3–82 years, from Hubei Province, People's Republic of China (Figure 1). The proband is a 58-year-old ...

Nearly everyone — with rare exceptions — is born with 23 pairs of chromosomes that were passed down from parents through combinations of their 46 chromosomes. X and Y, the two most popularly known ...

The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on ...