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  1. Article ; Online: PLEKHG5: Merging phenotypes and disease mechanisms in Charcot-Marie-Tooth neuropathy and lower motor neuron disease.

    Senderek, Jan

    European journal of neurology

    2021  Volume 28, Issue 4, Page(s) 1106–1107

    MeSH term(s) Charcot-Marie-Tooth Disease/genetics ; Guanine Nucleotide Exchange Factors ; Humans ; Motor Neuron Disease/genetics ; Phenotype
    Chemical Substances Guanine Nucleotide Exchange Factors ; PLEKHG5 protein, human
    Language English
    Publishing date 2021-02-08
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/ene.14752
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  2. Article ; Online: Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus.

    Schlotter-Weigel, Beate / Senderek, Jan

    Fortschritte der Neurologie-Psychiatrie

    2018  Volume 86, Issue 9, Page(s) 566–574

    Abstract: This paper is a practical survey of immune-mediated, inflammatory and hereditary neuropathies along with recommendations for diagnostic procedures. The large group of immune-mediated, inflammatory neuropathies includes the Guillain-Barré syndrome and ... ...

    Title translation Immune-mediated / inflammatory and hereditary neuropathies - overview and diagnostic algorithm.
    Abstract This paper is a practical survey of immune-mediated, inflammatory and hereditary neuropathies along with recommendations for diagnostic procedures. The large group of immune-mediated, inflammatory neuropathies includes the Guillain-Barré syndrome and chronic-inflammatory demyelinating polyradiculoneuropathy and their subtypes, vasculitic, paraneoplastic and paraproteinemic neuropathies as well as neuropathies resulting from connective tissue disorders. Besides clinical features such as time-dependent progression and distribution of sensorimotor deficits, characteristic electroneurographic findings and antibody profiles are considered. Recent studies in hereditary neuropathies reveal a prevalence of 10-28 out of 100 000 persons in Europe. Research into the genetic causes has made significant progress in the last 20 years; up to now more than 80 genes mutated in hereditary neuropathies have been identified. Besides classification into axonal, demyelinating or intermediate neuropathies based on electroneurography, distinguishing between sensorimotor, pure motor and (autonomous) sensory neuropathies as well as consideration of particular clinical features and ethnic origin can be helpful in orientating molecular genetic analysis.
    MeSH term(s) Algorithms ; Hereditary Sensory and Motor Neuropathy/diagnosis ; Hereditary Sensory and Motor Neuropathy/immunology ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans
    Language German
    Publishing date 2018-09-24
    Publishing country Germany
    Document type Journal Article ; Review
    ZDB-ID 625328-3
    ISSN 1439-3522 ; 0720-4299
    ISSN (online) 1439-3522
    ISSN 0720-4299
    DOI 10.1055/a-0655-7659
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  3. Article: Immunvermittelte / inflammatorische und hereditäre Neuropathien – Übersicht und diagnostischer Algorithmus

    Schlotter-Weigel, Beate / Senderek, Jan

    Fortschritte der Neurologie · Psychiatrie

    2018  Volume 86, Issue 09, Page(s) 566–574

    Abstract: Diese Arbeit gibt eine praxisnahe Übersicht über immunvermittelte / inflammatorische und hereditäre Neuropathien mit Empfehlungen zur weiterführenden Diagnostik. Zur großen Gruppe der immunvermittelten / inflammatorischen Neuropathien zählen u. a. das ... ...

    Abstract Diese Arbeit gibt eine praxisnahe Übersicht über immunvermittelte / inflammatorische und hereditäre Neuropathien mit Empfehlungen zur weiterführenden Diagnostik. Zur großen Gruppe der immunvermittelten / inflammatorischen Neuropathien zählen u. a. das Guillain-Barré-Syndrom und die chronisch-inflammatorische demyelinisierende Polyradikuloneuropathie mit ihren Subtypen, die vaskulitischen, paraneoplastischen, paraproteinämischen und die Kollagenose-assoziierten Neuropathien. Neben den klinischen Besonderheiten wie zeitlichem Verlauf und Verteilungstyp werden charakteristische Befunde der Elektroneurografie und Antikörper-Diagnostik berücksichtigt. Bei den hereditären Neuropathien sprechen neue Studien für eine Prävalenz von 10–28 pro 100 000 Einwohner in Europa. In den letzten 20 Jahren hat die molekulargenetische Diagnostik bei hereditären Neuropathien große Fortschritte gemacht. Mittlerweile sind über 80 Neuropathie-Gene bekannt. Neben der elektroneurografischen Einteilung in demyelinisierende, axonale und intermediäre Formen sind die Unterscheidung in sensomotorische, motorische, sensible oder autonom-sensible Neuropathien sowie die Berücksichtigung von klinischen Besonderheiten und ethnischer Zugehörigkeit hilfreich für die Bahnung der molekulargenetischen Diagnostik.
    Keywords Neuropathie ; immunvermittelt ; inflammatorisch ; hereditär ; diagnostischer Algorithmus ; Neuropathy ; immune-mediated ; inflammatory ; hereditary ; diagnostic algorithm
    Language German
    Publishing date 2018-09-01
    Publisher © Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 625328-3
    ISSN 1439-3522 ; 0720-4299
    ISSN (online) 1439-3522
    ISSN 0720-4299
    DOI 10.1055/a-0655-7659
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  4. Article: Charcot-Marie-Tooth disease and hereditary motor neuropathies - Update 2020

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Medizinische Genetik

    2020  Volume 32, Issue 3, Page(s) 207

    Language German
    Document type Article
    ZDB-ID 1083376-6
    ISSN 0936-5931
    Database Current Contents Medicine

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  5. Article ; Online: Hereditary Neuropathies: Update 2017.

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Neuropediatrics

    2017  Volume 48, Issue 4, Page(s) 282–293

    MeSH term(s) Diagnosis, Differential ; Genetic Predisposition to Disease/genetics ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/metabolism ; Hereditary Sensory and Motor Neuropathy/therapy ; Humans
    Language English
    Publishing date 2017-06-08
    Publishing country Germany
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0037-1603518
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  6. Book ; Online ; Thesis: Identifizierung und Charakterisierung der ursächlichen Genmutation einer Form der Charcot-Marie-Tooth-Neuropathie

    Martin, Julia [Verfasser] / Senderek, Jan [Akademischer Betreuer]

    2019  

    Author's details Julia Martin ; Betreuer: Jan Senderek
    Keywords Medizin, Gesundheit ; Medicine, Health
    Subject code sg610
    Language German
    Publisher Universitätsbibliothek der Ludwig-Maximilians-Universität
    Publishing place München
    Document type Book ; Online ; Thesis
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  7. Article: Hereditary Neuropathies: Update 2017

    Rudnik-Schöneborn, Sabine / Auer-Grumbach, Michaela / Senderek, Jan

    Neuropediatrics

    (Neuromuscular Disorders in Children and Adolescents)

    2017  Volume 48, Issue 04, Page(s) 282–293

    Abstract: Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are ...

    Series title Neuromuscular Disorders in Children and Adolescents
    Abstract Hereditary neuropathy is an umbrella term for a group of nonsyndromic conditions with a prevalence of approximately 1:2,500. In addition to the most frequent form, Charcot–Marie–Tooth's disease (CMT, or hereditary motor and sensory neuropathy), there are additional entities such as hereditary neuropathy with liability to pressure palsies (HNPP), hereditary motor neuropathies (HMNs), and hereditary sensory and autonomic neuropathies (HSANs). With the exception of HNPP, which is almost always caused by defects of the PMP22 gene, all other forms show genetic heterogeneity with altogether close to 100 genes involved. Mutation detection rates vary considerably, reaching up to 80% in demyelinating CMT (CMT1) but are still as low as 10 to 30% in axonal CMT (CMT2), HMN, and HSAN. Based on current information, analysis of only four genes ( PMP22 GJB1 MPZ MFN2 ) identifies 80 to 90% of CMT-causing mutations that can be detected in all known disease genes. For the remaining patients, parallel analysis of multiple neuropathy genes using next-generation sequencing is now replacing phenotype-oriented multistep gene-by-gene sequencing. Such approaches tend to generate a wealth of genetic information that requires comprehensive evaluation of the pathogenic relevance of identified variants. In this review, we present current classification systems, specific phenotypic clues, and genetic testing algorithms in the different subgroups of hereditary neuropathies.
    Keywords Charcot–Marie–Tooth's disease ; hereditary motor and sensory neuropathy ; hereditary neuropathy with liability to pressure palsies ; hereditary motor neuropathy ; distal spinal muscular atrophy ; hereditary sensory and autonomic neuropathy ; genetic testing algorithm ; genotype–phenotype correlation
    Language English
    Publishing date 2017-06-08
    Publisher Georg Thieme Verlag KG
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 573291-8
    ISSN 1439-1899 ; 0174-304X
    ISSN (online) 1439-1899
    ISSN 0174-304X
    DOI 10.1055/s-0037-1603518
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  8. Article ; Online: Congenital myasthenic syndrome caused by novel COL13A1 mutations.

    Dusl, Marina / Moreno, Teresa / Munell, Francina / Macaya, Alfons / Gratacòs, Margarida / Abicht, Angela / Strom, Tim M / Lochmüller, Hanns / Senderek, Jan

    Journal of neurology

    2019  Volume 266, Issue 5, Page(s) 1107–1112

    Abstract: Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three ... ...

    Abstract Collagen XIII is a non-fibrillar transmembrane collagen which has been long recognized for its critical role in synaptic maturation of the neuromuscular junction. More recently, biallelic COL13A1 loss-of-function mutations were identified in three patients with congenital myasthenic syndrome (CMS), a rare inherited condition with defective neuromuscular transmission, causing abnormal fatigability and fluctuating muscle weakness and often successfully treated with acetylcholinesterase inhibitors. Here we report six additional CMS patients from three unrelated families with previously unreported homozygous COL13A1 loss-of-function mutations (p.Tyr216*, p.Glu543fs and p.Thr629fs). The phenotype of our cases was similar to the previously reported patients including respiratory distress and severe dysphagia at birth that often resolved or improved in the first days or weeks of life. All individuals had prominent eyelid ptosis with only minor ophthalmoparesis as well as generalized muscle weakness, predominantly affecting facial, bulbar, respiratory and axial muscles. Response to acetylcholinesterase inhibitor treatment was generally negative while salbutamol proved beneficial. Our data further support the causality of COL13A1 variants for CMS and suggest that this type of CMS might be clinically homogenous and requires alternative pharmacological therapy.
    MeSH term(s) Child ; Collagen Type XIII/genetics ; Consanguinity ; DNA Mutational Analysis ; Family Health ; Female ; Humans ; Male ; Mutation/genetics ; Myasthenic Syndromes, Congenital/genetics ; Myasthenic Syndromes, Congenital/pathology ; Myasthenic Syndromes, Congenital/physiopathology ; Receptor, trkA/genetics ; Young Adult
    Chemical Substances COL13A1 protein, human ; Collagen Type XIII ; Receptor, trkA (EC 2.7.10.1)
    Language English
    Publishing date 2019-02-14
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s00415-019-09239-7
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  9. Article ; Online: Myelin protein zero mutation-related hereditary neuropathies: Neuropathological insight from a new nerve biopsy cohort.

    Bremer, Juliane / Meinhardt, Axel / Katona, Istvan / Senderek, Jan / Kämmerer-Gassler, Elke K / Roos, Andreas / Ferbert, Andreas / Schröder, J Michael / Nikolin, Stefan / Nolte, Kay / Sellhaus, Bernd / Popzhelyazkova, Klimentina / Tacke, Frank / Schara-Schmidt, Ulrike / Neuen-Jacob, Eva / de Groote, Chantal Ceuterick / de Jonghe, Peter / Timmerman, Vincent / Baets, Jonathan /
    Weis, Joachim

    Brain pathology (Zurich, Switzerland)

    2023  Volume 34, Issue 1, Page(s) e13200

    Abstract: Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease-associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed evidence for ... ...

    Abstract Myelin protein zero (MPZ/P0) is a major structural protein of peripheral nerve myelin. Disease-associated variants in the MPZ gene cause a wide phenotypic spectrum of inherited peripheral neuropathies. Previous nerve biopsy studies showed evidence for subtype-specific morphological features. Here, we aimed at enhancing the understanding of these subtype-specific features and pathophysiological aspects of MPZ neuropathies. We examined archival material from two Central European centers and systematically determined genetic, clinical, and neuropathological features of 21 patients with MPZ mutations compared to 16 controls. Cases were grouped based on nerve conduction data into congenital hypomyelinating neuropathy (CHN; n = 2), demyelinating Charcot-Marie-Tooth (CMT type 1; n = 11), intermediate (CMTi; n = 3), and axonal CMT (type 2; n = 5). Six cases had combined muscle and nerve biopsies and one underwent autopsy. We detected four MPZ gene variants not previously described in patients with neuropathy. Light and electron microscopy of nerve biopsies confirmed fewer myelinated fibers, more onion bulbs and reduced regeneration in demyelinating CMT1 compared to CMT2/CMTi. In addition, we observed significantly more denervated Schwann cells, more collagen pockets, fewer unmyelinated axons per Schwann cell unit and a higher density of Schwann cell nuclei in CMT1 compared to CMT2/CMTi. CHN was characterized by basal lamina onion bulb formation, a further increase in Schwann cell density and hypomyelination. Most late onset axonal neuropathy patients showed microangiopathy. In the autopsy case, we observed prominent neuromatous hyperinnervation of the spinal meninges. In four of the six muscle biopsies, we found marked structural mitochondrial abnormalities. These results show that MPZ alterations not only affect myelinated nerve fibers, leading to either primarily demyelinating or axonal changes, but also affect non-myelinated nerve fibers. The autopsy case offers insight into spinal nerve root pathology in MPZ neuropathy. Finally, our data suggest a peculiar association of MPZ mutations with mitochondrial alterations in muscle.
    MeSH term(s) Humans ; Myelin P0 Protein/genetics ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Mutation/genetics ; Proteins/genetics ; Biopsy
    Chemical Substances Myelin P0 Protein ; Proteins
    Language English
    Publishing date 2023-08-15
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 1051484-3
    ISSN 1750-3639 ; 1015-6305
    ISSN (online) 1750-3639
    ISSN 1015-6305
    DOI 10.1111/bpa.13200
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  10. Book ; Online ; Thesis: Charcot-Marie-Tooth Neuropathie Typ 2: neue Myelinprotein P0-Punktmutationen und Haplotypenanalyse in europäischen Familien

    Senderek, Jan Peter

    2002  

    Author's details vorgelegt von Jan Peter Senderek
    Language German
    Size Online-Ressource
    Document type Book ; Online ; Thesis
    Thesis / German Habilitation thesis Techn. Hochsch., Diss--Aachen, 2002
    Database Former special subject collection: coastal and deep sea fishing

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