Long survival in Leigh Syndrome: new cases and review of literature
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Long survival in Leigh Syndrome: new cases and review of literature. / Aulbert, Wiebke; Weigt-Usinger, Katharina; Thiels, Charlotte; Köhler, Cornelia; Vorgerd, Matthias; Schreiner, Anja; Hoffjan, Sabine; Rothoeft, Tobias; Wortmann, Saskia Brigitte; Heyer, Christoph Malte; Podskarbi, Teodor; Lücke, Thomas.
in: NEUROPEDIATRICS, Jahrgang 45, Nr. 6, 01.12.2014, S. 346-53.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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T1 - Long survival in Leigh Syndrome: new cases and review of literature
AU - Aulbert, Wiebke
AU - Weigt-Usinger, Katharina
AU - Thiels, Charlotte
AU - Köhler, Cornelia
AU - Vorgerd, Matthias
AU - Schreiner, Anja
AU - Hoffjan, Sabine
AU - Rothoeft, Tobias
AU - Wortmann, Saskia Brigitte
AU - Heyer, Christoph Malte
AU - Podskarbi, Teodor
AU - Lücke, Thomas
N1 - Georg Thieme Verlag KG Stuttgart · New York.
PY - 2014/12/1
Y1 - 2014/12/1
N2 - Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.g., dystonia, apnea) with death often occurring before the age of 10 years. Herein, we present three sisters carrying a previously reported homozygous SURF1 mutation (c.868_869insT) that is predicted to result in a truncated protein with loss of function. Our patients show heterogeneous clinical findings with different distribution patterns of metabolic lesions in brain magnetic resonance imaging (MRI) as well as a Chiari malformation with hydrocephalus in one patient. However, all three siblings show an unusual long survival (12 years and>16 years). COX activity was not detectable in one patient and strongly reduced in the other two. We discuss these findings with respect to a review of the literature. A total of 15 additional patients with survival>14 years have been reported so far. Overall, no clear genotype-phenotype correlations are detectable among these patients.
AB - Leigh syndrome (MIM 25600), also known as infantile subacute necrotizing encephalomyelopathy, is a neurodegenerative disorder with characteristic bilateral symmetric lesions in basal ganglia and subcortical brain regions. It is commonly associated with systemic cytochrome c oxidase (COX) deficiency and mutations in the SURF1 gene (MIM 185620), encoding a putative assembly or maintenance factor of COX. The clinical course is dominated by neurodevelopmental regression, brain stem, and basal ganglia involvement (e.g., dystonia, apnea) with death often occurring before the age of 10 years. Herein, we present three sisters carrying a previously reported homozygous SURF1 mutation (c.868_869insT) that is predicted to result in a truncated protein with loss of function. Our patients show heterogeneous clinical findings with different distribution patterns of metabolic lesions in brain magnetic resonance imaging (MRI) as well as a Chiari malformation with hydrocephalus in one patient. However, all three siblings show an unusual long survival (12 years and>16 years). COX activity was not detectable in one patient and strongly reduced in the other two. We discuss these findings with respect to a review of the literature. A total of 15 additional patients with survival>14 years have been reported so far. Overall, no clear genotype-phenotype correlations are detectable among these patients.
U2 - 10.1055/s-0034-1383823
DO - 10.1055/s-0034-1383823
M3 - SCORING: Journal article
C2 - 25111564
VL - 45
SP - 346
EP - 353
JO - NEUROPEDIATRICS
JF - NEUROPEDIATRICS
SN - 0174-304X
IS - 6
ER -