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  1. Article ; Online: The tip of the iceberg in ATTRv: when to start carrier monitoring and when to initiate treatment?

    Pareyson, Davide / Fenu, Silvia

    Journal of neurology, neurosurgery, and psychiatry

    2023  

    Language English
    Publishing date 2023-12-09
    Publishing country England
    Document type Editorial
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2023-332842
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: Gene therapy and other novel treatment approaches for Charcot-Marie-Tooth disease.

    Pisciotta, Chiara / Pareyson, Davide

    Neuromuscular disorders : NMD

    2023  Volume 33, Issue 8, Page(s) 627–635

    Abstract: There is still no effective drug treatment available for Charcot-Marie-Tooth disease (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment. The challenge is to find disease-modifying ... ...

    Abstract There is still no effective drug treatment available for Charcot-Marie-Tooth disease (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment. The challenge is to find disease-modifying therapies. Several approaches, including gene silencing (by means of ASO, siRNA, shRNA, miRNA, CRISPR-Cas9 editing), to counteract the PMP22 gene overexpression in the most frequent CMT1A type are under investigation. PXT3003 is the compound in the most advanced phase for CMT1A, as a second phase-III trial is ongoing. Gene therapy to substitute defective genes (particularly in recessive forms associated with loss-of-function mutations) or insert novel ones (e.g., NT3 gene) are being developed and tested in animal models and in still exceptional cases have reached the clinical trial phase in humans. Novel treatment approaches are also aimed at developing compounds acting on pathways important for different CMT types. Modulation of the neuregulin pathway determining myelin thickness is promising for both hypo-demyelinating and hypermyelinating neuropathies; intervention on Unfolded Protein Response seems effective for rescuing misfolded myelin proteins such as MPZ in CMT1B. HDAC6 inhibitors improved axonal transport and ameliorated phenotypes in different CMT models. Other potential therapeutic strategies include targeting macrophages, lipid metabolism, and Nav1.8 sodium channel in demyelinating CMT and the P2×7 receptor, which regulates calcium influx into Schwann cells, in CMT1A. Further approaches are aimed at correcting metabolic abnormalities, including the accumulation of sorbitol caused by biallelic mutations in the sorbitol dehydrogenase (SORD) gene and of neurotoxic glycosphingolipids in HSN1.
    MeSH term(s) Animals ; Humans ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/therapy ; Myelin Proteins/genetics ; Mutation ; Phenotype ; Genetic Therapy
    Chemical Substances Myelin Proteins
    Language English
    Publishing date 2023-07-04
    Publishing country England
    Document type Journal Article ; Review
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/j.nmd.2023.07.001
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Charcot-Marie-Tooth disease in Africa.

    Züchner, Stephan / Pareyson, Davide

    Journal of the peripheral nervous system : JPNS

    2022  Volume 27, Issue 2, Page(s) 98–99

    MeSH term(s) Africa/epidemiology ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/genetics ; Humans
    Language English
    Publishing date 2022-04-05
    Publishing country United States
    Document type Editorial
    ZDB-ID 1364009-4
    ISSN 1529-8027 ; 1085-9489
    ISSN (online) 1529-8027
    ISSN 1085-9489
    DOI 10.1111/jns.12488
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  4. Article ; Online: CMT2CC associated with

    Pisciotta, Chiara / Pareyson, Davide

    Journal of neurology, neurosurgery, and psychiatry

    2021  Volume 93, Issue 1, Page(s) 1

    MeSH term(s) Charcot-Marie-Tooth Disease/genetics ; Humans ; Mutation
    Language English
    Publishing date 2021-09-13
    Publishing country England
    Document type Editorial ; Comment
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2021-327438
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  5. Article ; Online: Updated review of therapeutic strategies for Charcot-Marie-Tooth disease and related neuropathies.

    Pisciotta, Chiara / Saveri, Paola / Pareyson, Davide

    Expert review of neurotherapeutics

    2021  Volume 21, Issue 6, Page(s) 701–713

    Abstract: ... ...

    Abstract Introduction
    MeSH term(s) Animals ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/therapy ; Humans
    Language English
    Publishing date 2021-06-07
    Publishing country England
    Document type Journal Article
    ZDB-ID 2112534-X
    ISSN 1744-8360 ; 1473-7175
    ISSN (online) 1744-8360
    ISSN 1473-7175
    DOI 10.1080/14737175.2021.1935242
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  6. Article ; Online: Extensive leukoencephalopathy in coeliac disease: report of three cases and review of the literature.

    Benzoni, Chiara / Moscatelli, Marco / Fenu, Silvia / Pareyson, Davide / Salsano, Ettore

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2022  Volume 43, Issue 5, Page(s) 3443–3447

    MeSH term(s) Celiac Disease/complications ; Celiac Disease/diagnosis ; Humans ; Leukoencephalopathies/complications ; Leukoencephalopathies/diagnostic imaging
    Language English
    Publishing date 2022-02-11
    Publishing country Italy
    Document type Case Reports ; Letter ; Review
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-022-05933-z
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article: Challenges in Treating Charcot-Marie-Tooth Disease and Related Neuropathies: Current Management and Future Perspectives.

    Pisciotta, Chiara / Saveri, Paola / Pareyson, Davide

    Brain sciences

    2021  Volume 11, Issue 11

    Abstract: There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain; fatigue and cramps are frequent ... ...

    Abstract There is still no effective drug treatment available for Charcot-Marie-Tooth neuropathies (CMT). Current management relies on rehabilitation therapy, surgery for skeletal deformities, and symptomatic treatment of pain; fatigue and cramps are frequent complaints that are difficult to treat. The challenge is to find disease-modifying therapies. Several approaches, including gene silencing, to counteract the
    Language English
    Publishing date 2021-10-29
    Publishing country Switzerland
    Document type Journal Article ; Review
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci11111447
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  8. Article ; Online: Reliable virtual clinical assessment in spino-bulbar muscular atrophy (SBMA).

    Fenu, Silvia / Tramacere, Irene / De Giorgi, Francesca / Pareyson, Davide

    Journal of neurology, neurosurgery, and psychiatry

    2022  Volume 94, Issue 2, Page(s) 161

    Abstract: Background: Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. ... ...

    Abstract Background: Spino-bulbar muscular atrophy (SBMA), caused by a CAG repeat expansion in the androgen receptor gene, affects adult men and results in muscle atrophy and weakness in the bulbar and limb muscles and signs of partial androgen insensitivity. During the COVID-19 pandemic, outpatients' visits have been reduced to preserve safety of frail patients, and telehealth was largely employed.
    Methods: From April to November 2020, we monitored 12 patients with SBMA with telehealth and administered remotely two clinical scales currently used for SBMA: Adult Myopathy Assessment Tool (AMAT) and SBMA-Functional Rating Scale (SBMA-FRS). We compared results with previous and subsequent in-person visits' scores, and assessed the longitudinal changes in AMAT and SBMA-FRS scores during 7 years through the repeated measures analysis of variance (ANOVA).
    Results: Repeated measures ANOVA of AMAT scores collected during 7 years and including tele-AMAT evaluation showed a steady mean decline of 1-2 points per year. A similar trend of SBMA-FRS scores, with a mean decline per year of about 1 point, was observed. There was no relevant deviation from the model prediction.
    Conclusions: Our data show that telehealth is a valid tool to monitor patients with SBMA: AMAT and SBMA-FRS scales can be effectively, reliably and easily administered remotely.
    MeSH term(s) Male ; Adult ; Humans ; Pandemics ; COVID-19 ; Muscular Atrophy, Spinal/diagnosis ; Muscular Atrophy, Spinal/genetics ; Muscular Atrophy ; Receptors, Androgen/genetics
    Chemical Substances Receptors, Androgen
    Language English
    Publishing date 2022-09-22
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3087-9
    ISSN 1468-330X ; 0022-3050
    ISSN (online) 1468-330X
    ISSN 0022-3050
    DOI 10.1136/jnnp-2022-329616
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  9. Article ; Online: Neurofilament light, biomarkers, and Charcot-Marie-Tooth disease.

    Pareyson, Davide / Shy, Michael E

    Neurology

    2018  Volume 90, Issue 6, Page(s) 257–259

    MeSH term(s) Biomarkers ; Charcot-Marie-Tooth Disease ; Humans ; Intermediate Filaments
    Chemical Substances Biomarkers
    Language English
    Publishing date 2018-01-10
    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.0000000000004936
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  10. Article ; Online: Recruiting for an International Rare Disease Clinical Trial Readiness Study during the COVID-19 pandemic: Challenges and solutions.

    Eichinger, Katy / Behrens-Spraggins, Steffen / Sowden, Janet E / Pareyson, Davide / Reilly, Mary M / Scherer, Steven S / Shy, Michael E / Herrmann, David N

    Journal of the peripheral nervous system : JPNS

    2023  Volume 28, Issue 3, Page(s) 528–529

    MeSH term(s) Humans ; COVID-19 ; Pandemics ; Rare Diseases ; Clinical Trials as Topic
    Language English
    Publishing date 2023-06-04
    Publishing country United States
    Document type Letter ; Research Support, N.I.H., Extramural
    ZDB-ID 1364009-4
    ISSN 1529-8027 ; 1085-9489
    ISSN (online) 1529-8027
    ISSN 1085-9489
    DOI 10.1111/jns.12559
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