Maike F. Dohrn

Dr. John T. Macdonald Foundation

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Jörg B. Schulz

Jülich Aachen Research Alliance

Stephan Züchner

Dr. John T. Macdonald Foundation

Adriana Rebelo

University of Miami

Burkhard Gess

RWTH Aachen University

Danique Beijer

Dr. John T. Macdonald Foundation

Matt C. Danzi

Dr. John T. Macdonald Foundation

Manuel Dafotakis

RWTH Aachen University

Roman Rolke

RWTH Aachen University

Thorsten Hornemann

University Hospital of Zurich

Kristl G. Claeys

KU Leuven

Cooperative Institutions

RWTH Aachen University

111

Universitätsklinikum Aachen

University College London

Laboratoire de Chimie Moléculaire et Thioorganique

Software (Spain)

Institut für Zuckerrübenforschung

Dr. John T. Macdonald Foundation

Heidelberg University

University of Miami

National Hospital for Neurology and Neurosurgery

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Neuropathische Schmerzsyndrome bei Ionenkanalerkrankungen

Der Internist (2018)

Maike F. Dohrn Angelika Lampert Nurcan Üçeyler Ingo Kurth

10.1007/s00108-018-0535-x

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Citations (6)

SORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOLLOW UP MULTI-CENTRE NATURAL HISTORY STUDY (2706)

Neurology (2021)

Andrea Cortese Maike F. Dohrn Yi Zhu Adriana Rebelo Jingyu Wang

Sunday, April 18April 13, 2021Free AccessSORD NEUROPATHY: GENE IDENTIFICATION AND PROPOSAL FOR A FOLLOW UP MULTI-CENTRE NATURAL HISTORY STUDY (2706)Andrea Cortese, Maike Dohrn, Yi Zhu, Adriana Rebelo, Jingyu Wang, Matt C. Danzi, Shawna M.E. Feely, … Show All … , Tanya Stojkovic, Michaela Auer-Grumbach, Sherifa A. Hamed, Ruxu Zhang, Fiore Manganelli, Franco Taroni, Davide Pareyson, Henry Houlden, David N. Herrmann, Mary M. Reilly, and Michael Shy Asian Oceanic Inherited Neuropathy Consortium Inherited Neuropathy Consortium, and Stephan Zuchner Show FewerAuthors Info & AffiliationsApril 13, 2021 issue96 (15_supplement)https://doi.org/10.1212/WNL.96.15_supplement.2706 Letters to the Editor

Identification

10.1212/wnl.96.15_supplement.2706

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P52 No cure, no care? Hopes and needs in 100 idiopathic small fiber neuropathy patients

Clinical Neurophysiology (2020)

C. Dumke Roman Rolke Burkhard Gess Jörg B. Schulz Maike F. Dohrn

10.1016/j.clinph.2019.12.058

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BiP inactivation due to loss of the deAMPylation function of FICD causes a motor neuron disease

Genetics in Medicine (2022)

Adriana Rebelo Ariel Ruiz Maike F. Dohrn Melanie Wayand Amjad Farooq

Chaperone (clinical)

Foldase

Adenylylation

Endoplasmic-reticulum-associated protein degradation

10.1016/j.gim.2022.08.019

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Citations (17)

63-jährige Patientin mit progredienter Gangstörung, Blickrichtungsnystagmus und kalten Händen

Klinische Neurophysiologie (2019)

Jan Heckelmann Maike F. Dohrn Manuel Dafotakis

Die Vorstellung der 63-jährigen Patientin erfolgte aufgrund einer seit ca. zwei Jahren progredienten Gangstörung und Schwindel. Zudem berichtete sie über sehr „kalte Hände“. Kognitiv habe sie keine Einschränkungen bemerkt, was der begleitende Ehemann bestätigte. Auf Nachfragen gab die Patientin noch an, dass sie in den letzten Monaten vermehrt Schwierigkeiten habe, rechtzeitig die Toilette zu erreichen, so dass es schon einige Male „schief gegangen“ sei.

10.1055/a-1015-1011

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Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies

Brain (2023)

Annette Lischka Katja Eggermann Christopher J. Record Maike F. Dohrn Petra Laššuthová

Congenital insensitivity to pain (CIP) and hereditary sensory and autonomic neuropathies (HSAN) are clinically and genetically heterogeneous disorders exclusively or predominantly affecting the sensory and autonomic neurons. Due to the rarity of the diseases and findings based mainly on single case reports or small case series, knowledge about these disorders is limited. Here, we describe the molecular workup of a large international cohort of CIP/HSAN patients including patients from normally under-represented countries. We identify 80 previously unreported pathogenic or likely pathogenic variants in a total of 73 families in the >20 known CIP/HSAN-associated genes. The data expand the spectrum of disease-relevant alterations in CIP/HSAN, including novel variants in previously rarely recognized entities such as ATL3-, FLVCR1- and NGF-associated neuropathies and previously under-recognized mutation types such as larger deletions. In silico predictions, heterologous expression studies, segregation analyses and metabolic tests helped to overcome limitations of current variant classification schemes that often fail to categorize a variant as disease-related or benign. The study sheds light on the genetic causes and disease-relevant changes within individual genes in CIP/HSAN. This is becoming increasingly important with emerging clinical trials investigating subtype or gene-specific treatment strategies.

10.1093/brain/awad328

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Novel CACNA1A Variant p.Cys256Phe Disrupts Disulfide Bonds and Causes Spinocerebellar Ataxia

Movement Disorders (2021)

Yuliia V. Nikonishyna Nadine J. Ortner Teresa Kaserer Jessica Hoffmann Saskia Biskup

Abstract Background Spinocerebellar ataxia (SCA) is a progressive, autosomal dominant neurodegenerative disorder typically associated with CAG repeat expansions. Objective We assessed the pathogenicity of the novel, heterozygous missense variant p.Cys256Phe (C256F) in the pore‐forming α1‐subunit of the Cav2.1 Ca 2+ channel found in a 63‐year‐old woman with SCA with no CAG repeat expansion. Methods We examined the effect of the C256F variant on channel function using whole‐cell patch‐clamp recordings in transfected tsA‐201 cells. Results The maximum Ca 2+ current density was significantly reduced in the mutant compared to wild‐type, which could not be explained by lower expression levels of mutant Cav2.1 α1‐ protein. Together with a significant increase in current inactivation, this is consistent with a loss of channel function. Molecular modeling predicted disruption of a conserved disulfide bond through the C256F variant. Conclusions Our results support the pathogenicity of the C256F variant for the SCA phenotype and provide further insight into Cav2.1 structure and function.

Mutant protein

Loss function

Wild type

10.1002/mds.28835

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Citations (4)

Plasma 1-deoxy-sphingolipid Levels and (Para) clinical Correlations in 100 Idiopathic Small Fiber Neuropathy Patients (4883)

Neurology (2021)

Maike F. Dohrn Christina Dumke Thorsten Hornemann Stefan Nikolin Ingo Kurth

To identify causes and markers of idiopathic small fiber neuropathies (SFN).

Sphingolipid

10.1212/wnl.96.15_supplement.4883

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Chance or challenge, spoilt for choice? New recommendations on diagnostic and therapeutic considerations in hereditary transthyretin amyloidosis with polyneuropathy: the German/Austrian position and review of the literature

Journal of Neurology (2020)

Maike F. Dohrn Michaela Auer‐Grumbach Ralf Baron Frank Birklein Fabiola Escolano‐Lozano

Hereditary transthyretin amyloidosis is caused by pathogenic variants (ATTRv) in the TTR gene. Alongside cardiac dysfunction, the disease typically manifests with a severely progressive sensorimotor and autonomic polyneuropathy. Three different drugs, tafamidis, patisiran, and inotersen, are approved in several countries, including the European Union and the United States of America. By stabilizing the TTR protein or degrading its mRNA, all types of treatment aim at preventing amyloid deposition and stopping the otherwise fatal course. Therefore, it is of utmost importance to recognize both onset and progression of neuropathy as early as possible. To establish recommendations for diagnostic and therapeutic procedures in the follow-up of both pre-symptomatic mutation carriers and patients with manifest ATTRv amyloidosis with polyneuropathy, German and Austrian experts elaborated a harmonized position. This paper is further based on a systematic review of the literature. Potential challenges in the early recognition of disease onset and progression are the clinical heterogeneity and the subjectivity of sensory and autonomic symptoms. Progression cannot be defined by a single test or score alone but has to be evaluated considering various disease aspects and their dynamics over time. The first-line therapy should be chosen based on individual symptom constellations and contra-indications. If symptoms worsen, this should promptly implicate to consider optimizing treatment. Due to the rareness and variability of ATTRv amyloidosis, the clinical course is most importantly directive in doubtful cases. Therefore, a systematic follow-up at an experienced center is crucial to identify progression and reassure patients and carriers.

10.1007/s00415-020-09962-6

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Citations (26)

Clinical characterization and therapy discussion of the p.Asp313Tyr variant in GLA

Molecular Genetics and Metabolism (2021)

Christina Dumke Diana Zengeler Lejla Mulahasanovic Jörg B. Schulz Burkhard Gess

Characterization

10.1016/j.ymgme.2020.12.067

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