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Scientific Publications

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Broad Spectrum of Fabry Disease Manifestation

Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function.

Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis.

BiomarkerCardiovascular
Author(s): Lukas, Jan, PhD
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Diagnostic Difficulties in Krabbe Disease: A Report of Two Cases and Review of Literature

A careful clinical description of two patients with Krabbe disease is followed by a discussion of radiological, biochemical, genetic, and neuropathological studies. Read more!

Globoid cell leukodystrophy (GLD, also known as Krabbe disease), whose pathophysiology is still not completely elucidated, is an inherited, metabolic, and neurodegenerative disease, caused by the deficiency of β-galactocerebrosidase (GALC) or in very rare cases by lack of active saposin A. We describe two patients, in whom first MRI changes were not suggestive of GLD. A careful clinical description of presented patients is followed by a discussion of radiological, biochemical, genetic, and neuropathological studies.

Metabolic DisordersNeurology
Author(s): Rolfs, Prof. Arndt, MD, Giese, Anne Katrin, MD, Eichler, Sabrina, PhD, Szymańska, Krystyna, PhD, Ługowska, Agnieszka, MD, Laure-Kamionowska, Milena, PhD, Bekiesińska-Figatowska, Monika, PhD, Gieruszczak-Białek, Dorota, MD, Musielak, Małgorzata, PhD
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A Founder Mutation Causing a Severe Methylenetetrahydrofolate Reductase (MTHFR) Deficiency in Bukharian Jews

Here we demonstrate the existence of a common splicing founder mutation in the MTHFR gene, causing a severe MTHFR deficiency among individuals of Jewish Bukharic ancestry. Read more!

Methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare autosomal recessive disorder. A novel homozygous MTHFR c.474A>T (p.G158G) mutation was detected in two unrelated children of Jewish Bukharian origin. This mutation generates an abnormal splicing and early termination codon.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Ben-Shachar, Shay, MD, Zvi, Tal, Breda Klobus, Andrea, MD, Yaron, Yuval, MD, Bar-Shira, Anat, PhD, Orr-Urtreger, Avi, PhD
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Novel Mutations in FA2H-Associated Neurodegeneration: An Underrecognized Condition?

FA2H-associated neurodegeneration is a rare autosomal recessive hereditary spastic paraplegia caused by biallelic mutations in FA2H. Read this case report!

Hereditary spastic paraplegias and related genetically heterogeneous disorders may be difficult to distinguish clinically. The FA2H gene has been associated with autosomal recessive neurodegenerative phenotypes encompassing spastic paraplegia with or without dystonia, and demyelinating leukodystroph. We report a 5-year-old girl of mixed Filipino and Vietnamese origin who presented with progressive lower limb spasticity and periventricular leukomalacia. The clinical diagnosis of FA2H-associated neurodegeneration was confirmed on the basis of 2 novel mutations in compound heterozygosity in the FA2H gene (p.S70L/p.P323L).

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Rupps, Rosemarie, Hukin, Juliette, MD, Balicki, Martha, Mercimek-Mahmutoglu, Saadet, MD, Dias, Cristina, MD
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Glucocerebrosidase Mutations in a Serbian Parkinson’s Disease Population

In the present study, we elucidated, for the first time, the role of GBA mutations in Parkinson´s disease in the Serbian population. Read more!

Gaucher disease (GD) is caused by homozygous or compound heterozygous mutations in the b-glucocerebrosidase (GBA) gene. GBA mutations can be classified according to phenotypic effects as mild (associated with ‘non-neuronopathic’ Type 1 GD) and severe or null (neuronopathic Type 2 or 3 disease). In the present study, we elucidated, for the first time, the role of GBA mutations in PD in the Serbian population, including mutational analysis of exons 8–11, genotype–phenotype comparisons, and haplotyping for the N370S mutation.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Kumar, Kishore, MD, Ramirez, Alfredo, MD, Göbel, Anna, MD, Kresojevic, Nikola, MD, Svetel, Prof. Marina, MD, Lohmann, Katja, PhD, Sue, Prof. Carolyn, PhD, Mazzulli, Joseph R., PhD, Alcalay, Roy N., MD, Krainc, Dimitri, MD, Kostić, Vladimir, MD, Grünewald, Anne, PhD
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Investigating Function and Connectivity of Morphometric Findings – Exemplified on Cerebellar Atrophy in Spinocerebellar Ataxia 17 (SCA17)

We exemplarily illustrate how to supplement specific functional information of current morphometric findings in the autosomal dominant spinocerebellar ataxia 17. Read more!

Spinocerebellar ataxia type 17 (SCA17) is a rare autosomal dominant neurodegenerative disorder characterized by progressive cerebellar ataxia but also a broad spectrum of other neuropsychiatric signs. As anatomical and structural studies have shown severe cerebellar atrophy in SCA17 and a differentiation of the human cerebellum into an anterior sensorimotor and posterior cognitive/emotional partition has been implicated, we aimed at investigating functional connectivity patterns of two cerebellar clusters of atrophy revealed by a morphometric analysis in SCA17 patients

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Reetz, Kathrin, MD, Dogan, Imis, PhD, Binkofski, Prof. Ferdinand, MD, Schulz, Prof. Jörg B., MD, Laird, Angela R., PhD, Fox, Peter T., MD, Eickhoff, Simon B., MD
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Newborn Screening for Lysosomal Storage Disorders in Hungary

We conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in identified patients is a robust, easy, valid, and feasible technology in newborn screening programs. Read more!

Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. Overall, we conclude that screening for LSDs by tandem MS/MS followed by a genetic workup in identified patients is a robust, easy, valid, and feasible technology in newborn screening programs. Furthermore, early diagnosis of LSDs gives a chance to early treatment, but needs more clinical long-term data especially regarding the consequence of private mutations.

Metabolic DisordersTandem Mass Spectometry
Author(s): Rolfs, Prof. Arndt, MD, Klingenhaeger, Michael, PhD, Gölnitz, Uta, MD, Giese, Anne Katrin, MD, Wittmann, Judit, Karg, Eszter, MD, Turi, Sàndor, MD, Legnini, Elisa, PhD, Wittmann, Gyula, PhD, Lukas, Jan, PhD, Bodamer, Olaf, PhD, Muehl, Adolf, PhD
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A Novel SGCE Gene Mutation Causing Myoclonus Dystonia in a Family with an Unusual Phenotype

This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia. Read more!

Myoclonus dystonia is an autosomal dominant dystonia-plus syndrome, characterized by symptom variability within families. Most often is the myoclonus the most debilitating symptom, and many patients report myoclonus reduction after alcohol intake. In several families, mutations in the SGCE gene have been identified. This report presents a novel mutation in the SGCE gene causing myoclonus dystonia and extends the phenotype of myoclonus dystonia to also include alcohol-induced dystonia.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Tedroff, Kristina, MD PhD, Norling, Andreas
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Autosomal Dominant Parkinson’s Disease in a Large German Pedigree

In this publication we report clinical and genetic results in a large family with late-onset autosomal dominant Parkinson´s disease. Read more!

Parkinson´s disease (PD) is a common disabling neurodegenerative disorder characterized by bradykinesia, rest tremor, rigidity, and postural instability with a prevalence of 2% in elderly persons. While several genes have been identified to cause Parkinson´s disease (PD), monogenic forms explain only a small proportion of cases. We report clinical and genetic results in a large family with late-onset autosomal dominant PD.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Lohmann, Katja, PhD, Brüggemann, Norbert, MD, Külper, W., Meinert Hagenah, Prof. Johann, MD, Bauer, Dr. Peter, MD, Pattaro, Cristian, PhD, Tadic, Vera, MD, Lohnau, Thora, Winkler, Susen, Tönnies, Holger, PhD, Sprenger, Andreas, PhD, Pramstaller, Prof. Peter P., MD, Siebert, Prof. Reiner, MD, Riess, Prof. Olaf, MD, Vieregge, Prof. Peter, MD
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An Unusual Neurological Syndrome of Crawling Gait, Dystonia, Pyramidal Signs, and Limited Speech

The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. Read more!

The purpose of the study was to identify and molecularly characterize a neurological syndrome in a consanguineous Pakistani family. An unusual neurological syndrome of crawling gait, predominant leg dystonia, pyramidal signs, microcephaly, and suspected deafness segregated in the family. We describe an unusual movement disorder syndrome reminiscent of but distinct from Uner Tan syndrome.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Klein, Prof. Christine, MD, Ramirez, Alfredo, MD, Lohmann, Katja, PhD, Grünewald, Anne, PhD, Arif, Beenish, PhD, Fatima, Amara, Ali, Arif, Brüggemann, Norbert, MD, Würfel, Jens, MD, Malik, Akbar, Naz, Sadaf, PhD
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Vocal Cord Paralysis and Rapid Progressive Motor Neuron Disease by the I113F Mutation in SOD1 Gene

We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis. Read more!

Familial cases of amyotrophic lateral sclerosis are most frequently caused by mutation in the superoxide dismutase-1 (SOD1) gene. We report a heterozygous I113F mutation in a patient with familial ALS characterized by early and predominant bilateral vocal cord paralysis followed by descending spinal cord paresis.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Gölnitz, Uta, MD, Hermann, Andreas, MD, Reuner, Ulrike, MD, Ziethe, Georg, MD, Bräuer, Andreas, Ricci, Claudia, PhD
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Hereditary Spastic Paraplegia Associated with Axonal Neuropathy: A Novel Mutation of SPG3A in a Large Family

We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia. Read more!

Spastic paraplegia Type 3A is an autosomal-dominant pure or uncomplicated hereditary spastic paraplegia. It is caused by mutations in SPG3A, the only gene associated with this condition. We identified a novel mutation, c.1040T>C (p. M347T), in a family with axonal neuropathy in addition to spastic paraplegia.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Al-Maawali, Almundher, MD, Klingenhaeger, Michael, PhD, Yoon, Grace, MD
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Juvenile Parkinsonism Associated with Heterozygous Frameshift ATP13A2 Gene Mutation

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. Read more!

We report a case of levodopa-responsive juvenile parkinsonism (JP) associated with a heterozygous ATP13A2 gene frameshift mutation. To our knowledge, this is the youngest reported patient with JP associated with a heterozygous ATP13A2 mutation. Our findings expand the clinical phenotypic spectrum of JP associated with heterozygous ATP13A2 mutation.

Neurology
Author(s): Rolfs, Prof. Arndt, MD, Fong, Prof. Choong Yi, MD, Schwarzbraun, Thomas, MD, Klein, Prof. Christine, MD, O’Callaghan, Finbar JK, PhD
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Respiratory Disease in Niemann-Pick Type C2 Is Caused by Pulmonary Alveolar Proteinosis

A patient is presented where the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid. Read more!

Niemann-Pick diseases are hereditary neurovisceral lysosomal lipid storage disorders, of which the rare type C2 almost uniformly presents with respiratory distress in early infancy. In the patient presented here, the NPC2 exon 4 frameshift mutation c.408_409delAA caused reduced NPC2 protein levels in serum and lung lavage fluid and the synthesis of an aberrant, larger sized protein of around 28 kDa.

BiomarkerMetabolic Disorders
Author(s): Rolfs, Prof. Arndt, MD, Griese, Prof. Matthias, MD, Brasch, Frank, MD, Aldana, Ruth, MD, de Lourdes Cabrera-Muñoz, María, MD, Karam Bechara, José, MD, Gölnitz, Uta, MD, Ikonen, Elina, MD, Liebisch, Gerhard, PhD, Linder, Matts D., Lohse, Peter, Meyer, Wolfgang, MD, Schmitz, Prof. Gerd, MD, Pamir, Asli, PhD, Ripper, Jan, MD, Schams, Andrea, Lezana Fernández, José Luis, MD
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Ataxia Oculomotor Apraxia Type 2: Course over 27 Years and a Novel Stop Mutation in the Senataxin Gene

Here we report the documented course over 27 years of a case of AOA2 and a novel homozygous stop mutation p.R1778X in the SETX gene. Read more!

Ataxia with oculomotor apraxia type 2 (AOA2) is an autosomal recessive cerebellar ataxia associated with mutations in the senataxin (SETX) gene coding for the ortholog of a yeast DNA/RNA helicase [7]. Here we report the documented course over 27 years of a case of AOA2 and a novel homozygous stop mutation p.R1778X in the SETX gene.

Neurology
Author(s): Haack, Tobias, MD, Klopstock, Prof. Thomas, MD, Bender, Prof. Andreas, MD, Rolfs, Prof. Arndt, MD, Friday, Douglas
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