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Scientific Publications

Curious About the Latest Scientific Discoveries?

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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