Salla disease

Salla disease (SD), also called sialic acid storage disease or Finnish type sialuria, is an autosomal recessivelysosomal storage disease characterized by early physical impairment and mental retardation. It was first described in 1979, after Salla, a municipality in Finnish Lapland. Salla disease is one of 40 Finnish heritage diseases and affects approximately 130 individuals, mainly from Finland and Sweden.

Characteristics

Individuals with Salla disease may present with nystagmus in the first months of life as well as hypotonia, reduced muscle tone and strength, and cognitive impairment. The most severely impaired children do not walk or acquire language, but the typical patient learns to walk and speak and has normal life expectancy. The MRI shows arrested or delayed myelination.

Cause and Genetics

SD is caused by a mutation in the SLC17A5 gene, located at human chromosome 6q14-15. This gene codes for sialin, a lysosomal membrane protein that transports the charged sugar, N-acetylneuraminic acid (sialic acid), out of lysosomes. The mutation causes sialic acid to build up in the cells.

Salla

Salla (Kuolajärvi until 1936) is a municipality of Finland, located in Lapland. The municipality has a population of 3,758 (30 June 2015) and covers an area of 5,872.21 square kilometres (2,267.27 sq mi) of which 142.73 km² (55.11 sq mi) is water. The population density is 0.66 inhabitants per square kilometre (1.7/sq mi). Neighbour municipalities are Kemijärvi, Kuusamo, Pelkosenniemi, Posio and Savukoski. The nearby settlement of Sallatunturi is home to the Salla Ski Resort.

History

Salla is in the Eastern Lapland and as a border area was affected by the Second World War. Red Army troops invaded Finland at Salla during the Winter War but were stopped by the Finnish Army (see Battle of Salla). Parts of the municipality were ceded to the Soviet Union after the war. The ceded part is sometimes called "Old Salla" or Vanha Salla. During the Continuation War the old town of Salla was on the Soviet side of the border. The German XXXVI Corps attacked the Soviet positions in an operation code-named Polarfuchs. With the help of the Finnish 6th Division it managed to occupy all of the ceded territories. At the end of the war the German troops were pushed out of Lapland by Finnish troops in the Lapland War.

Salla (disambiguation)

Salla may refer to: