Marinesco-Sjögren syndrome due to SIL1 mutations with a comment on the clinical phenotype.
Eur J Paediatr Neurol
; 17(2): 199-203, 2013 Mar.
Article
em En
| MEDLINE
| ID: mdl-23062754
ABSTRACT
BACKGROUND:
Marinesco-Sjögren syndrome is an autosomal recessive cerebellar ataxia, characterised by cerebellar ataxia, myopathy, cataracts and intellectual disability, due to mutations in the SIL1 gene.METHODS:
The clinical features and two novel SIL1 mutations of four Dutch patients with Marinesco-Sjögren syndrome are described and compared to the literature on genetically proven Marinesco-Sjögren patients.RESULTS:
The core phenotype of this syndrome appears homogeneous, but [1] cataract can develop later than the motor and cognitive signs; [2] myopathy is an early feature that seems progressive during the course of the disease; [3] serum creatine kinase is normal or only mildly elevated; [4] peripheral neuropathy is absent; and [5] a variable degree of intellectual disability is present in most Marinesco-Sjögren patients.CONCLUSIONS:
Because the late appearance of some hallmarks and the uncertainty as to whether incomplete phenotypes occur, SIL1 mutation analysis is helpful early in the diagnostic work-up of children with suspected inherited ataxias.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Degenerações Espinocerebelares
/
Fatores de Troca do Nucleotídeo Guanina
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Mutação
Limite:
Adult
/
Child
/
Humans
/
Male
Idioma:
En
Revista:
Eur J Paediatr Neurol
Ano de publicação:
2013
Tipo de documento:
Article