Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene.
Mol Cell Probes
; 29(5): 319-22, 2015 Oct.
Article
in En
| MEDLINE
| ID: mdl-26327357
ABSTRACT
Mutations in the DARS2 gene are known to cause leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL), a rare autosomal recessive neurological disorder. It was originally described as juvenile-onset slowly progressive ataxia and spasticity, but recent reports suggest a broader clinical spectrum. Most patients were found to carry compound heterozygous DARS2 mutations, and only very few patients with homozygous mutations have been described so far. We present here an 8-month-old boy carrying a homozygous missense mutation in DARS2 who clinically showed severe neurological deterioration after a respiratory tract infection, followed by an almost complete remission of symptoms. This report further extends the knowledge about the clinical and molecular genetic spectrum of LBSL.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aspartate-tRNA Ligase
/
Mutation, Missense
/
Leukoencephalopathies
Type of study:
Diagnostic_studies
Limits:
Humans
/
Infant
/
Male
Language:
En
Journal:
Mol Cell Probes
Journal subject:
BIOLOGIA MOLECULAR
/
BIOTECNOLOGIA
Year:
2015
Type:
Article