Progressive cerebellocerebral atrophy: a new syndrome with microcephaly, mental retardation, and spastic quadriplegia

Metabolic evaluation Blood lactate, pyruvate, ammonia, creatinine, uric acid, very long chain fatty acids, amino acids, homocysteine, carnitine, isoelectric focusing of transferrin, and urinary organic acids were normal in all patients. [...]we report on a new autosomal recessive syndrome characterised by profound mental retardation, progressive spastic quadriplegia with joint contractures, generalised seizures, irritability, and progressive microcephaly following normal head circumference at birth.