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Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

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Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. / Köhler, Cornelia; Heyer, Christoph; Hoffjan, Sabine; Stemmler, Susanne; Lücke, Thomas; Thiels, Charlotte; Kohlschütter, Alfried; Löbel, Ulrike; Horvath, Rita; Kleinle, Stephanie; Benet-Pagès, Anna; Abicht, Angela.

In: MOL CELL PROBE, Vol. 29, No. 5, 29.10.2015, p. 319-322.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Köhler, C, Heyer, C, Hoffjan, S, Stemmler, S, Lücke, T, Thiels, C, Kohlschütter, A, Löbel, U, Horvath, R, Kleinle, S, Benet-Pagès, A & Abicht, A 2015, 'Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene', MOL CELL PROBE, vol. 29, no. 5, pp. 319-322. https://doi.org/10.1016/j.mcp.2015.06.005

APA

Köhler, C., Heyer, C., Hoffjan, S., Stemmler, S., Lücke, T., Thiels, C., Kohlschütter, A., Löbel, U., Horvath, R., Kleinle, S., Benet-Pagès, A., & Abicht, A. (2015). Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. MOL CELL PROBE, 29(5), 319-322. https://doi.org/10.1016/j.mcp.2015.06.005

Vancouver

Köhler C, Heyer C, Hoffjan S, Stemmler S, Lücke T, Thiels C et al. Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene. MOL CELL PROBE. 2015 Oct 29;29(5):319-322. https://doi.org/10.1016/j.mcp.2015.06.005

Bibtex

@article{e95eeffc23674b44aecc1f0ae1e7befc,
title = "Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene",
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. ",
author = "Cornelia K{\"o}hler and Christoph Heyer and Sabine Hoffjan and Susanne Stemmler and Thomas L{\"u}cke and Charlotte Thiels and Alfried Kohlsch{\"u}tter and Ulrike L{\"o}bel and Rita Horvath and Stephanie Kleinle and Anna Benet-Pag{\`e}s and Angela Abicht",
year = "2015",
month = oct,
day = "29",
doi = "10.1016/j.mcp.2015.06.005",
language = "English",
volume = "29",
pages = "319--322",
journal = "MOL CELL PROBE",
issn = "0890-8508",
publisher = "Academic Press Inc.",
number = "5",

}

RIS

TY - JOUR

T1 - Early-onset leukoencephalopathy due to a homozygous missense mutation in the DARS2 gene

AU - Köhler, Cornelia

AU - Heyer, Christoph

AU - Hoffjan, Sabine

AU - Stemmler, Susanne

AU - Lücke, Thomas

AU - Thiels, Charlotte

AU - Kohlschütter, Alfried

AU - Löbel, Ulrike

AU - Horvath, Rita

AU - Kleinle, Stephanie

AU - Benet-Pagès, Anna

AU - Abicht, Angela

PY - 2015/10/29

Y1 - 2015/10/29

N2 - 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.

AB - 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.

U2 - 10.1016/j.mcp.2015.06.005

DO - 10.1016/j.mcp.2015.06.005

M3 - SCORING: Journal article

VL - 29

SP - 319

EP - 322

JO - MOL CELL PROBE

JF - MOL CELL PROBE

SN - 0890-8508

IS - 5

ER -