… in all NCL types in Finland (Santavuori unpublished). A deficiency of … Raitta Ch, Santavuori
P. Ophthalmological findings and main … Raitta Ch, Santavuori P. Ophthalmological findings in …

NEURONAL ceroid lipofuscinoses (NCL) represent a group of common progressive
encephalopathies of children which have a global incidence of 1 in 12,500 (ref. 1). These severe …

Efficacy of drugs for the acute treatment of migraine in children has not so far been studied
in well controlled trials.We conducted a study to evaluate the efficacy of acetaminophen and …

… , E., Santavuori, P. Delayed … Santavuori, P. Ophthalmological findings in infantile type of
so-called neuronal ceroid Iipofuscinosis. Acta Ophthalmologica, 1973,51: 755-763. Santavuori, P…

The neuronal ceroid lipofuscinoses (NCLs) represent a group of common recessive inherited
neurodegenerative disorders of childhood, with an incidence of 1: 12,500 live births 1. …

Clinical features of a rare congenital myopathy, muscle-eye-brain (MEB) disease, are
described in 19 patients. The pedigree data suggest an autosomal recessive inheritance. The …

A clinical description is given of a uniform series of 15 patients with a progressive encephalopathy.
The disease had its clinical onset at the age of 8 to 18 months with rapid psychomotor …

Background: Three rare autosomal recessive disorders share the combination of congenital
muscular dystrophy and brain malformations including a neuronal migration defect: muscle–…

… 27 Autti T, Raininko R, Santavuori P. Magnetic resonance techniques in neuronal ceroid
lipofuscinoses and some other lysosomal diseases affecting the brain. Curr Opin Neurol 1997, …

… The infantile form of neuronal ceroid lipofuscinosis (INCL; Santavuori-Haltia disease;
MIM 256730) is an early onset, neurodegenerative disease characterized by psychomotor …