SIL1-related Marinesco-Sjoegren syndrome (MSS) with associated motor neuronopathy and bradykinetic movement disorder

Susan Byrne, Nomazulu Dlamini, Daniel Lumsden, Matthew Pitt, Irina Zaharieva, Francesco Muntoni, Andrew King, Leema Robert, Heinz Jungbluth

Research output: Contribution to journalArticlepeer-review

13 Citations (Scopus)

Abstract

Marinesco-Sjoegren syndrome (MSS) is a recessively inherited multisystem disorder caused by mutations in SIL1 and characterized by cerebellar atrophy with ataxia, cataracts, a skeletal muscle myopathy, and variable degrees of developmental delay. Pathogenic mechanisms implicated to date include mitochondrial, nuclear envelope and lysosomal-autophagic pathway abnormalities. Here we present a 5-year-old girl with SIL1-related MSS and additional unusual features of an associated motor neuronopathy and a bradykinetic movement disorder preceding the onset of ataxia. These findings suggest that an associated motor neuronopathy may be part of the phenotypical spectrum of SIL1-related MSS and should be actively investigated in genetically confirmed cases. The additional observation of a bradykinetic movement disorder suggests an intriguing continuum between neurodevelopmental and neurodegenerative multisystem disorders intricately linked in the same cellular pathways.

Original languageEnglish
Number of pages4
JournalNeuromuscular Disorders
DOIs
Publication statusE-pub ahead of print - 2015

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