期刊
NEUROMUSCULAR DISORDERS
卷 25, 期 7, 页码 585-588出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2015.04.003
关键词
Marinesco-Sjoegren syndrome (MSS); SIL1 gene; Bradykinetic movement disorder; Motor neuronopathy; Multisystem disorders; Autophagy
资金
- European Community [2012-305121]
- Medical Research Council [MR/K000608/1] Funding Source: researchfish
- Muscular Dystrophy UK [RA4/924, RA4/0924] Funding Source: researchfish
- Rosetrees Trust [M145] Funding Source: researchfish
- MRC [MR/K000608/1] Funding Source: UKRI
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. (C) 2015 Elsevier B.V. All rights reserved.
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