Congenital disorder of glycosylation type Ia presenting as early-onset cerebellar ataxia in an adult

Congenital disorders of glycosylation (CDG) are a recently described, underrecognized group of syndromes characterized biochemically by abnormal glycosylation of serum and cellular glycoproteins. We report a previously undiagnosed adult male who presented with early-onset cerebellar ataxia in the context of mental impairment, peripheral neuropathy, retinopathy, body dysmorphism, cardiomyopathy, and hypogonadism. Newly available screening and genetic testing confirmed the diagnosis as CDG type Ia. This case emphasizes that CDG should be considered as a differential diagnosis for adults with early-onset cerebellar ataxia, particularly in those persons with the aforementioned features, and that undiagnosed cases of childhood ataxia may require reassessment now that testing is available. © 2006 Movement Disorder Society

The preparation of reach-to-grasp movements in adults, children, and children with movement problems

This study explored the use of advance information in the control of reach-to-grasp movements. The paradigm required participants to reach and grasp illuminated blocks with their right hand. Four target blocks were positioned on a table surface, two each side of the mid-saggital plane. In the complete precue condition, advance information precisely specified target location. In the partial precue condition, advance information indicated target location relative to the midsaggital plane (left or right). In the null condition, the advance information was entirely ambiguous. Participants produced fastest responses in the complete precue condition, intermediate response times in the partial condition, and the slowest responses in the null condition. This result was observed in adults and four groups of children including a group aged 4-6 years. In contrast, children with Developmental Coordination Disorder (DCD, n = 11, aged 7-13 years) showed no advantage of partial precueing. Movement duration was determined by target location but was unaffected by precue condition. Movement duration was a clear function of age apart from children in the DCD group who showed equivalent movement times to those of the youngest children. These findings provide important insights into the control of reach-to-grasp movements and highlight that partial cues are exploited by children as young as 4 years but are not used in situations of abnormal development.