Search results for "Marinesco–Sjögren syndrome"

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SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome.

2013

Marinesco-Sjogren syndrome is a rare autosomal recessive multisystem disorder featuring cerebellar ataxia, early-onset cataracts, chronic myopathy, variable intellectual disability and delayed motor development. More recently, mutations in the SIL1 gene, which encodes an endoplasmic reticulum resident co-chaperone, were identified as the main cause of Marinesco-Sjogren syndrome. Here we describe the results of SIL1 mutation analysis in 62 patients presenting with early-onset ataxia, cataracts and myopathy or combinations of at least two of these. We obtained a mutation detection rate of 60% (15/25) among patients with the characteristic Marinesco-Sjogren syndrome triad (ataxia, cataracts, m…

MalePathologymedicine.medical_specialtyAtaxiaultrastructure [Muscle Skeletal]SIL1 protein humanAdolescentMarinesco–Sjögren syndromeDNA Mutational Analysisgenetics [Mutation]Bioinformaticsmedicine.disease_causepathology [Muscle Skeletal]physiopathology [Spinocerebellar Degenerations]Cataractspathology [Brain]Intellectual disabilitymedicineGuanine Nucleotide Exchange FactorsHumansddc:610MyopathyMuscle SkeletalCells CulturedRetrospective StudiesSpinocerebellar DegenerationsFamily HealthMutationB-LymphocytesCerebellar ataxiabusiness.industryBrainmedicine.diseasegenetics [Guanine Nucleotide Exchange Factors]Magnetic Resonance Imaging10124 Institute of Molecular Life Sciencesgenetics [Spinocerebellar Degenerations]2728 Neurology (clinical)pathology [Spinocerebellar Degenerations]Mutationultrastructure [Brain]570 Life sciences; biologyAllelic heterogeneityFemaleNeurology (clinical)Neurosciences & Neurologymedicine.symptombusinessBrain : a journal of neurology
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Marinesco-Sjögren syndrome caused by a new SIL1 frameshift mutation

2015

no abstract available

Neurologybusiness.industryMarinesco–Sjögren syndromeAutosomal recessive cerebellar ataxias Cerebellar atrophy Early-onset cataracts Marinesco-Sjögren Syndrome Mental retardation SIL1 geneCancer researchMedicineCerebellar atrophySettore MED/26 - NeurologiaNeurology (clinical)businessmedicine.diseaseAutosomal recessive cerebellar ataxias; Cerebellar atrophy; Early-onset cataracts; Marinesco-Sjögren Syndrome; Mental retardation; SIL1 geneFrameshift mutation
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