Marinesco-Sjogren syndrome

Definition:

Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated co-chaperone SIL1/BAP were identified to be the major cause of this syndrome.

References:

[1]. Anna-Kaisa Anttonen, et al. The gene disrupted in Marinesco-Sjögren syndrome encodes SIL1, an HSPA5 cochaperone. Nat Genet. 2005 Dec;37(12):1309-11. [Content Brief]

[2]. Jan Senderek, et al. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy. Nat Genet. 2005 Dec;37(12):1312-4. [Content Brief]

[3]. Jennifer Howes, et al. C-terminal mutations destabilize SIL1/BAP and can cause Marinesco-Sjögren syndrome. J Biol Chem. 2012 Mar 9;287(11):8552-60. [Content Brief]

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