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Scientific Publications

Curious About the Latest Scientific Discoveries?

Rett-Like Onset in Late-Infantile Neuronal Ceroid Lipofuscinosis

We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL.

We present clinical and molecular findings of a patient with ceroid-lipofuscinosis CLN7, with a compound heterozygous mutation of the MFSD8 gene, with Rett syndrome clinical signs onset and a later development of full picture of vLINCL.

Neurology
Author(s): Craiu, Dana
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Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations

We report two new, putative TOR1A mutations that we examined functionally in comparison with wild-type protein and two known mutations. Read more!

Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Lohmann, Katja, PhD, Vulinović, Franca, Rakovic, Aleksandar, PhD, Capetian, Philipp, MD, Alvarez-Fischer, Daniel, MD, Schmidt, Alexander, PhD, Weißbach, Anne, MD, Erogullari, Alev, Kaiser, Frank J., PhD, Wiegers, Karin, Ferbert, Prof. Andreas, MD, Seibler, Philip, PhD
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Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family

We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B. Read more!

Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of 2 siblings with HSAN type 2 due to a homozygous mutation in FAM134B.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Ilgaz Aydinlar, Prof. Elif, MD, Serteser, Prof. Mustafa, MD, Parman, Prof. Yesim, MD
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Continuous Cardiac Troponin I Release in Fabry Disease

One aim of this study was to analyze whether persistent cTNI can be a suitable biomarker to assess cardiac dysfunction in Fabry disease. Read more!

Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.

BiomarkerCardiovascular
Author(s): Rolfs, Prof. Arndt, MD, Tanislav, Prof. Christian, MD, Guenduez, Dursun, MD, Sieweke, Nicole, MD, Feustel, Andreas, Hahn, Andreas, Schneider, Christian, Franzen, Wolfgang
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Lessons from Everyday Stroke Care for Clinical Research and Vice Versa: Comparison of a Comprehensive and a Research Population of Young Stroke Patients

We compared baseline data of patients included in a recent large study addressing young stroke in comparison to a large representative stroke registry. Read more!

The comparison of baseline characteristics between the sifap1 study and the GQH registry revealed differences mainly determined by age.

Cardiovascular
Author(s): Rolfs, Prof. Arndt, MD, Tanislav, Prof. Christian, MD, Grittner, Ulrike, PhD, Misselwitz, Bjoern, MD, Jungehuelsing, Gerhard Jan, MD, Enzinger, Christian, MD, von Sarnowski, Bettina, MD, Putaala, Prof. Jukka, Kaps, Prof. Manfred, MD, Kropp, Prof. Peter, MD, Tatlisumak, Turgut, Fazekas, Prof. Franz, MD, Kolodny, Edwin, MD, Norrving, Prof. Bo
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Relative Acidic Compartment Volume as a Biomarker

In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients. Read more on our website.

In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients derived from multiple independent clinical cohorts to ensure statistical power.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Te Vruchte, Danielle, Al Eisa, Nada, PhD, Cortina-Borja, Mario, PhD, Porter, Forbes D., PhD, Platt, Frances M., PhD, Speak, Anneliese O., PhD, Wallom, Kerri L., PhD, Smith, David A., Hendriksz, Christian J., MD, Simmons, Louise, Lachmann, Robin H., PhD, Cousins, Alison, Hartung, Ralf, Mengel, Eugen, MD, Runz, Heiko, MD, Beck, Prof. Michael, MD, Amraoui, Yasmina, MD, Imrie, Jackie, Jacklin, Elizabeth, Riddick, Kate, Yanjanin, Nicole M., Wassif, Christopher A., PhD, Rimmele, Florian, MD, Wright, Naomi, Taylor, Prof. Clare, MD, Ramaswami, Uma, MD, Cox, Timothy M., MD, Hastings, Caroline, MD, Jiang, Xuntian, PhD, Sidhu, Rohini, Ory, Daniel S., MD, Arias Novas, Begoña, Jeyakumar, Mylvaganam, PhD, Sillence, Daniel J., PhD, Wraith, James E.
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The Novel Arylindolylmaleimide PDA-66 Displays Pronounced Antiproliferative Effects in Acute Lymphoblastic Leukemia Cells

In this publication we evaluated the influence of a novel arylindolylmaleimide (PDA-66), a potential GSK3β inhibitor, on several ALL cell lines. Read more!

PDA-66 displays significant antileukemic activity in ALL cells and classifies as candidate for further evaluation as a potential drug in targeted therapy of ALL.

Oncology
Author(s): Rolfs, Prof. Arndt, MD, Kretzschmar, Christin, Roolf, Catrin, PhD, Langhammer, Tina-Susann, Sekora, Anett, Pews-Davtyan, Anahit, MD, Beller, Prof. Matthias, PhD, Frech, Moritz J, PhD, Eisenlöffel, Christian, Junghanss, Prof. Christian, MD
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Plasma Glucosylsphingosine: A Specific and Sensitive Biomarker for the Primary Diagnostic and Follow-Up in Patients with Gaucher Disease

We determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease. Read more!

Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Lukas, Jan, PhD, Muehl, Adolf, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Mascher, Daniel, PhD
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Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease

In this publication our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease. Read more!

Our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Niemann, Markus, MD, Störk, Stefan, MD PhD, Bijnens, Bart, PhD, Breunig, Frank, MD, Beer, Prof. Meinrad, MD, Ertl, Georg, MD, Wanner, Christoph, MD
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Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease

We used a mutant mouse model to examine the effects of NPC1 to morphologically distinct regions of the olfactory system. Read more!

Our data demonstrate a pronounced neurodegeneration and glia activation in the olfactory system of NPC1-/-, which is accompanied by sensory deficits.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Meyer, Wolfgang, MD, Lukas, Jan, PhD, Hovakimyan, Marina, PhD, Luo, Jiankai, MD, Gudziol, Volker, MD, Hummel, Prof. Thomas, MD, Wree, Prof. Andreas, MD, Witt, Prof. Martin, MD
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Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease

We evaluated the sensitivity and specificity of the previously reported biomarker glucosylsphingosine with regard to different control groups. Read more!

Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the specificity of Glucosylsphingosine as a biomarker for GD. In addition, we evaluated the biomarker before and during enzyme replacement therapy (ERT) in 19 patients, demonstrating a decrease in Glucosylsphingosine over time with the most pronounced reduction within the first 6 months of ERT. Furthermore, our data reveals a correlation between the medical consequence of specific mutations and Glucosylsphingosine.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Gölnitz, Uta, MD, Meyer, Wolfgang, MD, Giese, Anne Katrin, MD, Lukas, Jan, PhD, Elstein, Deborah, Zimran, Ari, MD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Böttcher, Tobias, PhD, Mascher, Daniel, PhD, Hübner, Rayk, Röhle, Anja, Dudesek, Ales, MD, Wittstock, Matthias, MD
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Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease

We investigated whether Fabry disease could be a cause of idiopathic SFN with or without large fiber involvement in young to middle-aged patients. Read more!

The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy (8.3%). Genetic alterations of unknown clinical significance in GLA were detected in 6 of the 29 patients with true idiopathic SFN, but this rate did not differ significantly from that in healthy controls (n=203).

BiomarkerNeurology
Author(s): Rolfs, Prof. Arndt, MD, Samuelsson, Kristin, PhD, Kostulas, Konstantinos, MD PhD, Vrethem, Prof. Magnus, Press, Rayomand, MD PhD
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Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?

We present an overview of cases of Fabry disease initially misdiagnosed with multiple sclerosis and report the clinical and laboratory findings. Read more!

There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, confluent white matter lesions on MRI, normal spinal MR imaging, ectatic vertebrobasilar arteries, proteinuria, or lack of intrathecally derived immunoglobulin synthesis.

Metabolic DisordersNeurology
Author(s): Rolfs, Prof. Arndt, MD, Tanislav, Prof. Christian, MD, Giese, Anne Katrin, MD, Kolodny, Edwin, MD, Böttcher, Tobias, PhD, Bitsch, Prof. Andreas, MD, Köhler, Prof. Wolfgang, MD, Gaedeke, Jens, MD, Duning, Prof. Thomas, MD
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Functional Characterisation of Alpha-Galactosidase

This work aims to draw the attention to milder forms of Fabry disease which might at first appear unrelated to this clinically heterogenous disease. Read more!

In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) 1-deoxygalactonojirimycin (DGJ) as a tool to analyse the influence of individual mutations on subcellular organelle-trafficking and stability. We analysed a significant number of mutations and correlated the obtained properties to the clinical manifestation related to the mutation in order to improve our knowledge of the identity of functional relevant amino acids.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Meyer, Wolfgang, MD, Giese, Anne Katrin, MD, Lukas, Jan, PhD, Mascher, Prof. Hermann, Grittner, Ulrike, PhD, Saviouk, Viatcheslav, Kolodny, Edwin, MD, Wree, Prof. Andreas, MD, Markoff, Arseni, PhD, Lackner, Prof. Karl J., MD
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Clinical, Genetic, and Brain Sonographic Features Related to Parkinson’s Disease in Gaucher Disease

Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of Parkinson´s disease in Gaucher disease. Read more!

Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. We conclude that the combined clinical, genetic, and transcranial sonographic assessment may improve the PD risk evaluation in Gaucher disease.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Kropp, Prof. Peter, MD, Böttcher, Tobias, PhD, Grossmann, Annette, MD, Berg, Prof. Daniela, MD, Benecke, Prof. Reiner, MD, Walter, Prof. Uwe, MD, Meyer, Bianca, PhD
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