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  1. Article ; Online: Overarching pathomechanisms in inherited peripheral neuropathies, spastic paraplegias, and cerebellar ataxias.

    Van de Vondel, Liedewei / De Winter, Jonathan / Timmerman, Vincent / Baets, Jonathan

    Trends in neurosciences

    2024  Volume 47, Issue 3, Page(s) 227–238

    Abstract: International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different ... ...

    Abstract International consortia collaborating on the genetics of rare diseases have significantly boosted our understanding of inherited neurological disorders. Historical clinical classification boundaries were drawn between disorders with seemingly different etiologies, such as inherited peripheral neuropathies (IPNs), spastic paraplegias, and cerebellar ataxias. These clinically defined borders are being challenged by the identification of mutations in genes displaying wide phenotypic spectra and by shared pathomechanistic themes, which are valuable indications for therapy development. We highlight common cellular alterations that underlie this genetic landscape, including alteration of cytoskeleton, axonal transport, mitochondrial function, and DNA repair response. Finally, we discuss venues for future research using the long axonopathies of the PNS as a model to explore other neurogenetic disorders.
    MeSH term(s) Humans ; Cerebellar Ataxia/genetics ; Spastic Paraplegia, Hereditary/genetics ; Peripheral Nervous System Diseases/genetics ; Mutation/genetics ; Paraplegia
    Language English
    Publishing date 2024-02-14
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 282488-7
    ISSN 1878-108X ; 0378-5912 ; 0166-2236
    ISSN (online) 1878-108X
    ISSN 0378-5912 ; 0166-2236
    DOI 10.1016/j.tins.2024.01.004
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article: Commentary:

    Van De Vondel, Liedewei / De Winter, Jonathan / Baets, Jonathan

    Frontiers in molecular neuroscience

    2022  Volume 15, Page(s) 1017684

    Language English
    Publishing date 2022-09-27
    Publishing country Switzerland
    Document type Journal Article ; Comment
    ZDB-ID 2452967-9
    ISSN 1662-5099
    ISSN 1662-5099
    DOI 10.3389/fnmol.2022.1017684
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Contracturing granulomatous myositis in a patient with rheumatoid arthritis: a case report.

    De Ridder, Willem / Van Herck, Laurens / Cypers, Gert / Ravelingien, Isabelle / Baets, Jonathan

    Neuromuscular disorders : NMD

    2024  Volume 36, Page(s) 38–41

    Abstract: Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point ...

    Abstract Contracturing granulomatous myositis is a rare myopathy in which patients present with flexion contractures of the upper limbs in addition to slowly progressive muscle weakness and pain. Whether it represents a distinct nosological entity remains a point of discussion. We present a patient with isolated granulomatous disease of the muscle that responded very well to intravenous immunoglobulins after treatment failure of corticosteroids and methotrexate.
    MeSH term(s) Humans ; Myositis/complications ; Myositis/diagnosis ; Arthritis, Rheumatoid/complications ; Arthritis, Rheumatoid/drug therapy ; Methotrexate/therapeutic use ; Contracture ; Immunoglobulins, Intravenous/therapeutic use
    Chemical Substances Methotrexate (YL5FZ2Y5U1) ; Immunoglobulins, Intravenous
    Language English
    Publishing date 2024-01-10
    Publishing country England
    Document type Case Reports
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2024.01.002
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Tempering our metrics: Finding new ways to refine tried and true instruments.

    Lawson, Victoria H / Baets, Jonathan

    Neurology

    2020  Volume 94, Issue 9, Page(s) 373–374

    MeSH term(s) Benchmarking ; Longitudinal Studies
    Language English
    Publishing date 2020-02-10
    Publishing country United States
    Document type Editorial ; Comment
    ZDB-ID 207147-2
    ISSN 1526-632X ; 0028-3878
    ISSN (online) 1526-632X
    ISSN 0028-3878
    DOI 10.1212/WNL.0000000000009028
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  5. Article ; Online: The expanding genetic landscape of hereditary motor neuropathies.

    Beijer, Danique / Baets, Jonathan

    Brain : a journal of neurology

    2020  Volume 143, Issue 12, Page(s) 3540–3563

    Abstract: Hereditary motor neuropathies are clinically and genetically diverse disorders characterized by length-dependent axonal degeneration of lower motor neurons. Although currently as many as 26 causal genes are known, there is considerable missing ... ...

    Abstract Hereditary motor neuropathies are clinically and genetically diverse disorders characterized by length-dependent axonal degeneration of lower motor neurons. Although currently as many as 26 causal genes are known, there is considerable missing heritability compared to other inherited neuropathies such as Charcot-Marie-Tooth disease. Intriguingly, this genetic landscape spans a discrete number of key biological processes within the peripheral nerve. Also, in terms of underlying pathophysiology, hereditary motor neuropathies show striking overlap with several other neuromuscular and neurological disorders. In this review, we provide a current overview of the genetic spectrum of hereditary motor neuropathies highlighting recent reports of novel genes and mutations or recent discoveries in the underlying disease mechanisms. In addition, we link hereditary motor neuropathies with various related disorders by addressing the main affected pathways of disease divided into five major processes: axonal transport, tRNA aminoacylation, RNA metabolism and DNA integrity, ion channels and transporters and endoplasmic reticulum.
    MeSH term(s) Genetic Linkage ; Hereditary Sensory and Motor Neuropathy/genetics ; Humans ; Neuromuscular Diseases/genetics
    Language English
    Publishing date 2020-11-18
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awaa311
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  6. Article ; Online: A Recurrent KPNA3 Missense Variant Causing Infantile Pure Spastic Paraplegia.

    De Winter, Jonathan / Van de Vondel, Liedewei / Züchner, Stephan / Ortibus, Els / Baets, Jonathan

    Annals of neurology

    2022  Volume 91, Issue 2, Page(s) 298–299

    MeSH term(s) Humans ; Mutation, Missense/genetics ; Paraplegia ; Spastic Paraplegia, Hereditary ; alpha Karyopherins
    Chemical Substances KPNA3 protein, human ; alpha Karyopherins
    Language English
    Publishing date 2022-01-20
    Publishing country United States
    Document type Letter ; Comment
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.26297
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    Zs.MO 478: Show issues

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  7. Article ; Online: Reply: De novo SPTAN1 mutation in axonal sensorimotor neuropathy and developmental disorder.

    Van de Vondel, Liedewei / Baets, Jonathan / Beijer, Danique

    Brain : a journal of neurology

    2020  Volume 143, Issue 12, Page(s) e105

    MeSH term(s) Codon, Nonsense ; Humans ; Peripheral Nervous System Diseases ; Phenotype ; Spectrin
    Chemical Substances Codon, Nonsense ; Spectrin (12634-43-4)
    Language English
    Publishing date 2020-11-15
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 80072-7
    ISSN 1460-2156 ; 0006-8950
    ISSN (online) 1460-2156
    ISSN 0006-8950
    DOI 10.1093/brain/awaa345
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  8. Article ; Online: High prevalence of sporadic late-onset nemaline myopathy in a cohort of whole-exome sequencing negative myopathy patients.

    De Ridder, Willem / De Jonghe, Peter / Straub, Volker / Baets, Jonathan

    Neuromuscular disorders : NMD

    2021  Volume 31, Issue 11, Page(s) 1154–1160

    Abstract: Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have been ... ...

    Abstract Sporadic late-onset nemaline myopathy (SLONM) is an enigmatic, supposedly very rare, putatively immune-mediated late-onset myopathy, typically presenting with subacutely progressive limb-girdle muscular weakness, yet slowly progressing cases have been described too. We systematically studied (para)clinical and histopathological findings in a cohort of 18 isolated yet suspected inherited myopathy patients, showing late-onset, slowly progressive limb-girdle muscle weakness, remaining unsolved after whole-exome sequencing. The presence of a monoclonal gammopathy of unknown significance (MGUS) and anti-HMGCR antibodies was determined. Biopsies were systematically re-evaluated and systematic immunohistochemical and electron microscopy studies were performed to particularly evaluate the presence of rods and/or inflammatory features. Ten patients showed rods as core feature on muscle biopsy on re-evaluation, four of these had an IgG κ MGUS in blood. As such, these ten patients represented suspected slowly progressing SLONM patients, with auxiliary data supporting this diagnosis: 1) additional muscle biopsy features pointing towards Z-disk and myofibrillar pathology; 2) a common selective pattern of muscle involvement on MRI; 3) inflammatory features on muscle biopsy. Findings in this proof-of-concept study highlight difficulties in reliably diagnosing slowly progressing SLONM and the probably underestimated prevalence of this entity in cohorts of whole exome sequencing negative myopathy patients, initially considered having an inherited myopathy.
    MeSH term(s) Aged ; Cohort Studies ; Female ; Humans ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Monoclonal Gammopathy of Undetermined Significance/epidemiology ; Muscle Weakness/pathology ; Muscle, Skeletal/pathology ; Myopathies, Nemaline/epidemiology ; Prevalence ; Proof of Concept Study ; Whole Exome Sequencing
    Language English
    Publishing date 2021-05-14
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2021.04.010
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  9. Article ; Online: Distinct features in adult polyglucosan body disease: a case series.

    De Winter, Jonathan / Cypers, Gert / Jacobs, Edwin / Bossche, Stephanie Vanden / Deconinck, Tine / De Ridder, Willem / Dekeyzer, Sven / Baets, Jonathan

    Neuromuscular disorders : NMD

    2022  Volume 33, Issue 2, Page(s) 148–152

    Abstract: Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of ...

    Abstract Adult polyglucosan body disease (APBD) is caused by bi-allelic pathogenic variants in GBE1 and typically shows middle age onset urinary symptoms followed by progressive gait disturbances and possibly cognitive decline. Here we present a Belgian cohort of four patients from three families showing both classical and atypical signs of APBD. By clinical phenotyping, detailed neuroimaging of both central nervous system and skeletal muscle, genetic and biochemical testing, we confront our findings with the classical presentation of adult polyglucosan body disease and emphasize the importance of a multidisciplinary approach when diagnosing these patients.
    MeSH term(s) Middle Aged ; Adult ; Humans ; Glycogen Storage Disease/diagnosis ; Glycogen Storage Disease/genetics ; Glycogen Storage Disease/pathology ; Nervous System Diseases/diagnostic imaging ; Nervous System Diseases/genetics ; Central Nervous System ; Muscle, Skeletal/pathology
    Language English
    Publishing date 2022-12-31
    Publishing country England
    Document type Case Reports ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2022.12.016
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  10. Article ; Online: Vitamin D

    Ehnert, Sabrina / Hauser, Stefan / Hengel, Holger / Höflinger, Philip / Schüle, Rebecca / Lindig, Tobias / Baets, Jonathan / Deconinck, Tine / de Jonghe, Peter / Histing, Tina / Nüssler, Andreas K / Schöls, Ludger / Rattay, Tim W

    Scientific reports

    2024  Volume 14, Issue 1, Page(s) 7335

    Abstract: Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations in CYP7B1 resulting in ... ...

    Abstract Hereditary spastic paraplegia type 5 (SPG5) is an autosomal recessively inherited movement disorder characterized by progressive spastic gait disturbance and afferent ataxia. SPG5 is caused by bi-allelic loss of function mutations in CYP7B1 resulting in accumulation of the oxysterols 25-hydroxycholesterol and 27-hydroxycholesterol in serum and cerebrospinal fluid of SPG5 patients. An effect of 27- hydroxycholesterol via the estrogen and liver X receptors was previously shown on bone homeostasis. This study analyzed bone homeostasis and osteopenia in 14 SPG5 patients as a non-motor feature leading to a potential increased risk for bone fractures. T-Scores in CT bone density measurements were reduced, indicating osteopenia in SPG5 patients. Further, we analyzed various metabolites of bone homeostasis by ELISA in serum samples of these patients. We identified a lack of vitamin D
    MeSH term(s) Humans ; Mutation ; Spastic Paraplegia, Hereditary/genetics ; Spastic Paraplegia, Hereditary/metabolism ; Oxysterols ; Paraplegia ; Homeostasis ; Vitamin D/therapeutic use
    Chemical Substances Oxysterols ; Vitamin D (1406-16-2)
    Language English
    Publishing date 2024-03-27
    Publishing country England
    Document type Journal Article
    ZDB-ID 2615211-3
    ISSN 2045-2322 ; 2045-2322
    ISSN (online) 2045-2322
    ISSN 2045-2322
    DOI 10.1038/s41598-024-53057-5
    Database MEDical Literature Analysis and Retrieval System OnLINE

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