Metabolic causes of mental retardation Page 32 Page 33 trinucleotide repeat expansions and
deletions will be presented as well as the new techniques including CGHmicroarray, DHPLC …

Key Facts The correct diagnosis of inherited metabolic diseases that affect the nervous
system primarily is a major challenge because the same neurological symptoms and often …

Huntington's disease (HD) is clinically characterized by a movement disorder and dementia.
It is an autosomal dominant condition caused by a CAG repeat expansion within the IT15 …

Metabolic compromise has been found to precede both neuronal loss and the appearance
of motoric and cognitive deficits in Huntington's disease (HD) patients. Studies using both …

The Huntington's disease (HD) gene mutation has recently been found; however, the
biochemical defect that leads to neurodegeneration is still unknown. A progressive …

Huntington's disease (HD) is a debilitating autosomal dominant, neurodegenerative disease
with a fatal prognosis. Classical symptoms include motor disturbances, subcortical dementia …

We investigated whether the Huntington's desease (HD) gene mutation may produce either
primary or secondary effects on energy metalbolism. 31P magnetic resonance spectroscopy …

A 7-year-old girl with the juvenile form of Huntington disease is described. She had
personality changes, speech and gait disturbances, diffuse rigidity, dementia, and a well …

Knowledge of the molecular causes for genetic diseases that affect the nervous system is
rapidly expanding. Especially striking has been the finding in several autosomal dominant …

Morphometric studies of the tail of the caudate nucleus, the site where the pathology is first
seen, were performed on 16 brain specimens collected from individuals at risk for inheriting …