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NEUROLOGY 1983;33:57
© 1983 American Academy of Neurology

Salla disease

A new lysosomal storage disorder with disturbed sialic acid metabolism

Martin Renlund, MD, Pertti Aula, MD, Kari O. Raivio, MD, Seppo Autio, MD, Kimmlo Sainio, MD, Juhani Rapola, MD and Sirkka-Liisa Koskela, MD

Children's Hospital, University of Helsinki (Drs. Renlund, Aula, Raivio, Sainio, and Rapola), and the Children's Castle Hospital, Helsinki (Dr. Autio), and Kolpene Institution for Mentally Retarded, Rovaniemi (Dr. Koskela), Finland.

Salla disease is a lysosomal storage disorder associated with increased urinary excretion of free sialic acid. The main clinical features in 34 patients were severe psychomotor retardation of early onset, ataxia, athetosis, rigidity, spasticity, and impaired speech. Growth retardation, thick calvarium, and exotropia were present in about half the patients. The amplitude of EEG decreased progressively with increasing age. Life span appears to be normal; the age range of the patients was 3 to 63 years. Genealogic studies suggest an autosomal mode of inheritance. A thin-layer method is described for the detection of increased urinary free sialic acid excretion. The basic defect is so far unknown.

Address correspondence and reprint requests to Dr. Renlund, Children's Hospital, University of Helsinki, Stenbäckinkatu 11 SF-02900, Helsinki 29, Finland.

This work was supported by grants from the Association of the Finnish Life Insurance Companies, the Sigrid Juselius Foundation, the Foundation for Pediatric Research, Helsinki, and Finska Läkaresällskapet.

Presented in part at the annual meeting of European Society for Pediatric Research, Athens, Greece, June, 1980.

Accepted for publication May 25, 1982.




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