CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose hereditärer Ataxien im Erwachsenenalter

Bubel, Sebastian; Peters, Verena; Klein, Colin; Hackler, Rolf; Schaefer, Jürgen R.; Hagenah, J.; Hoffmann, Georg F.; Vieregge, P.

doi:10.1007/s00115-002-1351-y

Cited by 7 publications

(2 citation statements)

References 33 publications

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“…Other features reported in more than single patients include skin/peau d’orange in 7 (Clayton et al 1992; Vabres et al 1998; de Michelena et al 1999; Stark et al 2000; Noelle et al 2005; van de Kamp et al 2007), dysplastic ears (cupped, anteverted or crumpled) in 7 patients (Clayton et al 1992; Garel et al 1998; Tayebi et al 2002; Rudaks et al 2012; Resende et al 2014; Serrano et al 2015), low-set ears in 6 (Clayton et al 1992; Imtiaz et al 2000; Al-Maawali et al 2014; Serrano et al 2015), long philtrum in 6 (Harding et al 1988; Pavone et al 1996; Morava et al 2004; van de Kamp et al 2007; Kasapkara et al 2017), high-arched palate in 5 (Tayebi et al 2002; Bubel et al 2002; Işıkay et al 2014; Kasapkara et al 2017), long face in 3 (de Michelena et al 1999; Tayebi et al 2002), narrow/short palpebral fissures in 3 (Truin et al 2008; Işıkay et al 2014), epicanthal folds in 2 (Tayebi et al 2002; Enns et al 2002), prominent nose in 2 (Barone et al 2008; Thong et al 2009), and anteverted nares in 2 (Tayebi et al 2002; Morava et al 2004). Other features variably reported included hypertelorism in 2 (Edwards et al 2006; Kasapkara et al 2017), but hypotelorism in 2 (Pavone et al 1996); downslanted palpebral fissures in 3 (Clayton et al 1992; Bubel et al 2002), while others had upslanted palpebral fissures (Kjaergaard et al 2001; Brum et al 2008); flat nasal bridge in 5 (Harding et al 1988; Tayebi et al 2002; Thong et al 2009; Al-Maawali et al 2014; Kasapkara et al 2017) but high nasal bridge in 4 (Artigas et al 1998; Antoun et al 1999; Laplace et al 2003). A coarse face has been described in older adults (Bortot et al 2013; Barone et al 2015).…”

Section: Resultsmentioning

confidence: 99%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

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Pattern recognition, using a group of characteristic, or discriminating features, is a powerful tool in metabolic diagnostic. A classic example of this approach is used in biochemical analysis of urine organic acid analysis, where the reporting depends more on the correlation of pertinent positive and negative findings, rather than on the absolute values of specific markers. Similar uses of pattern recognition in the field of biochemical genetics include the interpretation of data obtained by metabolomics, like glycomics, where a recognizable pattern or the presence of a specific glycan sub-fraction can lead to the direct diagnosis of certain types of congenital disorders of glycosylation. Another indispensable tool is the use of clinical pattern recognition-or syndromology-relying on careful phenotyping. While genomics might uncover variants not essential in the final clinical expression of disease, and metabolomics could point to a mixture of primary but also secondary changes in biochemical pathways, phenomics describes the clinically relevant manifestations and the full expression of the disease. In the current review we apply phenomics to the field of congenital disorders of glycosylation, focusing on recognizable differentiating findings in glycosylation disorders, characteristic dysmorphic features and malformations in PMM2-CDG, and overlapping patterns among the currently known glycosylation disorders based on their pathophysiological basis.

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Section: Resultsmentioning

confidence: 99%

Recognizable phenotypes in CDG

Ferreira

Altassan

Marques‐da‐Silva

et al. 2018

J of Inher Metab Disea

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“…Neurological signs in CDG-Ia can include psychomotor retardation, epilepsy, peripheral neuropathy, hypotonia, and ataxia due to cerebellar hypoplasia. Just a few cases have been reported with isolated ataxia caused by cerebellar hypoplasia without the typical multi-system presentation [1,2,7]. In these cases, an abnormal isofocusing profile of plasma transferrin pointed to the diagnosis of CDG-Ia.In this report,we present two similar cases with cerebellar ataxia and normal or only slightly abnormal transferrin profiles.…”

Section: Introductionmentioning

confidence: 95%

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

et al. 2007

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Cerebellar ataxia can have many genetic causes among which are the congenital disorders of glycosylation type I (CDG-I). In this group of disorders, a multisystem phenotype is generally observed including the involvement of many organs, the endocrine, hematologic and central nervous systems. A few cases of CDG-Ia have been reported with a milder presentation, namely cerebellar hypoplasia as an isolated abnormality. To identify patients with a glycosylation disorder, isofocusing of plasma transferrin is routinely performed. Here, we describe two CDG-Ia patients,who presented with mainly ataxia and cerebellar hypoplasia and with a normal or only slightly abnormal transferrin isofocusing result. Surprisingly, the activity of the corresponding enzyme phosphomannomutase was clearly deficient in both leucocytes and fibroblasts. Therefore, in patients presenting with apparently recessive inherited ataxia caused by cerebellar hypoplasia and an unknown genetic aetiology after proper diagnostic work-up, we recommend the measurement of phosphomannomutase activity when transferrin isofocusing is normal or inconclusive.

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High‐resolution capillary zone electrophoresis and mass spectrometry for distinction of undersialylated and hypoglycosylated transferrin glycoforms in body fluids

Caslavska

Schild

Thormann

2019

J of Separation Science

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High‐resolution capillary zone electrophoresis is used to distinguish transferrin glycoforms present in human serum, cerebrospinal fluid, and serum treated with neuraminidase and N‐glycosidase F. The obtained data are compared to mass spectrometry data from the literature. The main focus is on the analysis of the various asialo‐transferrin, monosialo‐transferrin, and disialo‐transferrin molecules found in these samples. The features of capillary zone electrophoresis and mass spectrometry are reviewed and highlighted in the context of the analysis of undersialylated and hypoglycosylated transferrin molecules. High‐resolution capillary zone electrophoresis represents an effective tool to assess the diversity of transferrin patterns whereas mass spectrometry is the method of choice to elucidate structural identification about the glycoforms. Hypoglycosylated transferrin glycoforms present in sera of alcohol abusers and normal subjects are structurally identical to those in sera of patients with a congenital disorder of glycosylation type I. Asialo‐transferrin, monosialo‐transferrin and disialo‐transferrin observed in sera of patients with a type II congenital disorder of glycosylation or a hemolytic uremic syndrome, in cerebrospinal fluid and after treatment of serum with neuraminidase are undersialylated transferrin glycoforms with two N‐glycans of varying structure. Undersialylated disialo‐transferrin is also observed in sera with high levels of trisialo‐transferrin.

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CDG (congenital disorders of glycosylation) Zur Differenzialdiagnose hereditärer Ataxien im Erwachsenenalter

Cited by 7 publications

References 33 publications

Recognizable phenotypes in CDG

Recognizable phenotypes in CDG

Cerebellar ataxia and congenital disorder of glycosylation Ia (CDG-Ia) with normal routine CDG screening

High‐resolution capillary zone electrophoresis and mass spectrometry for distinction of undersialylated and hypoglycosylated transferrin glycoforms in body fluids

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