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  1. Article: The natural history of Pelizaeus-Merzbacher disease caused by PLP1 duplication: A multiyear case series.

    Trepanier, Angela M / Aguilar, Sienna / Kamholz, John / Laukka, Jeremy J

    Clinical case reports

    2023  Volume 11, Issue 9, Page(s) e7814

    Abstract: This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus-Merzbacher disease (PMD) associated ... ...

    Abstract This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus-Merzbacher disease (PMD) associated with
    Language English
    Publishing date 2023-08-25
    Publishing country England
    Document type Case Reports
    ZDB-ID 2740234-4
    ISSN 2050-0904
    ISSN 2050-0904
    DOI 10.1002/ccr3.7814
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  2. Article ; Online: The natural history of Pelizaeus–Merzbacher disease caused by PLP1 duplication

    Angela M. Trepanier / Sienna Aguilar / John Kamholz / Jeremy J. Laukka

    Clinical Case Reports, Vol 11, Iss 9, Pp n/a-n/a (2023)

    A multiyear case series

    2023  

    Abstract: Key Clinical Message This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age ...

    Abstract Key Clinical Message This study aimed to characterize the clinical features, developmental milestones, and the natural history of Pelizaeus–Merzbacher disease (PMD) associated with PLP1 gene duplications. The study examined 16 PMD Patients ranging in age from 7 to 48 years, who had a documented PLP1 gene duplication. The study examined and analyzed the medical and developmental histories of the subjects utilizing a combination of resources that included medical history questionnaires, medical record reviews, and a 31‐point functional disability scale that had been previously validated. The data extracted from the medical records and questionnaires for analysis included information related to medical and developmental histories, level of ambulation and cognition, and degree of functional disability. The summation of findings among the study population demonstrated that the presenting symptoms, developmental milestones achieved, and progression of symptoms reported are consistent with many previous studies of patients with PLP1 duplications. All patients exhibited onset within the first year of life, with nystagmus predominating as the first symptom noticed. All patients exhibited delays in both motor and language development; however, many individuals were able to meet several developmental milestones. They exhibited some degree of continued motor impairment with none having the ability to walk independently. All patients were able to complete at least some of the cognition achievements and although not all were verbal, a number were able to use communication devices to complete these tasks. A critical tool of the study was the functional disability scale which provided a major advantage in helping quantify the clinical course of PMD, and for several, we were able to gather this information at more than one point in time. These reported findings in our cohort contribute important insight into the clinical heterogeneity and potential underlying mechanisms that define the molecular pathogenesis of the disease. This ...
    Keywords gene duplication ; humans ; mutation ; myelin proteolipid protein ; Pelizaeus–Merzbacher disease/genetics ; Pelizaeus–Merzbacher disease/pathophysiology ; Medicine ; R ; Medicine (General) ; R5-920
    Subject code 610
    Language English
    Publishing date 2023-09-01T00:00:00Z
    Publisher Wiley
    Document type Article ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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  3. Article ; Online: Increased leg muscle fatigability during 2 mA and 4 mA transcranial direct current stimulation over the left motor cortex.

    Workman, Craig D / Kamholz, John / Rudroff, Thorsten

    Experimental brain research

    2020  Volume 238, Issue 2, Page(s) 333–343

    Abstract: Transcranial direct current stimulation (tDCS) using intensities ≤ 2 mA on physical and cognitive outcomes has been extensively investigated. Studies comparing the effects of different intensities of tDCS have yielded mixed results and little is known ... ...

    Abstract Transcranial direct current stimulation (tDCS) using intensities ≤ 2 mA on physical and cognitive outcomes has been extensively investigated. Studies comparing the effects of different intensities of tDCS have yielded mixed results and little is known about how higher intensities (> 2 mA) affect outcomes. This study examined the effects of tDCS at 2 mA and 4 mA on leg muscle fatigability. This was a double-blind, randomized, sham-controlled study. Sixteen healthy young adults underwent tDCS at three randomly ordered intensities (sham, 2 mA, 4 mA). Leg muscle fatigability of both legs was assessed via isokinetic fatigue testing (40 maximal reps, 120°/s). Torque- and work-derived fatigue indices (FI-T and FI-W, respectively), as well as total work performed (TW), were calculated. FI-T of the right knee extensors indicated increased fatigability in 2 mA and 4 mA compared with sham (p = 0.01, d = 0.73 and p < 0.001, d = 1.61, respectively). FI-W of the right knee extensors also indicated increased fatigability in 2 mA and 4 mA compared to sham (p = 0.01, d = 0.57 and p < 0.001, d = 1.12, respectively) and 4 mA compared with 2 mA (p = 0.034, d = 0.37). tDCS intensity did not affect TW performed. The 2 mA and 4 mA tDCS intensities increased the fatigability of the right knee extensors in young, healthy participants, potentially from altered motor unit recruitment/discharge rate or cortical hyperexcitability. Despite this increase in fatigability, the TW performed in both these conditions was not different from sham.
    MeSH term(s) Adult ; Double-Blind Method ; Female ; Humans ; Leg/physiology ; Male ; Motor Activity/physiology ; Motor Cortex/physiology ; Muscle Fatigue/physiology ; Muscle, Skeletal/physiology ; Placebos ; Transcranial Direct Current Stimulation ; Young Adult
    Chemical Substances Placebos
    Language English
    Publishing date 2020-01-09
    Publishing country Germany
    Document type Journal Article ; Randomized Controlled Trial
    ZDB-ID 1201-4
    ISSN 1432-1106 ; 0014-4819
    ISSN (online) 1432-1106
    ISSN 0014-4819
    DOI 10.1007/s00221-019-05721-w
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  4. Article ; Online: Transcranial direct current stimulation (tDCS) for the treatment of a Multiple Sclerosis symptom cluster.

    Workman, C D / Kamholz, J / Rudroff, T

    Brain stimulation

    2019  Volume 13, Issue 1, Page(s) 263–264

    Language English
    Publishing date 2019-09-25
    Publishing country United States
    Document type Letter
    ZDB-ID 2394410-9
    ISSN 1876-4754 ; 1935-861X
    ISSN (online) 1876-4754
    ISSN 1935-861X
    DOI 10.1016/j.brs.2019.09.012
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  5. Article ; Online: Predicting the unpredictable.

    Kamholz, John

    Annals of neurology

    2009  Volume 65, Issue 4, Page(s) 480

    MeSH term(s) Biomedical Research/economics ; Biomedical Research/trends ; Humans ; Neurology/trends
    Language English
    Publishing date 2009-04
    Publishing country United States
    Document type Comment ; Letter
    ZDB-ID 80362-5
    ISSN 1531-8249 ; 0364-5134
    ISSN (online) 1531-8249
    ISSN 0364-5134
    DOI 10.1002/ana.21650
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    Zs.MO 478: Show issues

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  6. Article: The Tolerability and Efficacy of 4 mA Transcranial Direct Current Stimulation on Leg Muscle Fatigability.

    Workman, Craig D / Kamholz, John / Rudroff, Thorsten

    Brain sciences

    2019  Volume 10, Issue 1

    Abstract: Transcranial direct current stimulation (tDCS) modulates cortical excitability and affects a variety of outcomes. tDCS at intensities ≤2 mA is well-tolerated, but the tolerability and efficacy of tDCS at intensities >2 mA merits systematic investigation. ...

    Abstract Transcranial direct current stimulation (tDCS) modulates cortical excitability and affects a variety of outcomes. tDCS at intensities ≤2 mA is well-tolerated, but the tolerability and efficacy of tDCS at intensities >2 mA merits systematic investigation. The study objective was to determine the tolerability and effects of 4 mA tDCS on leg muscle fatigability. Thirty-one young, healthy adults underwent two randomly ordered tDCS conditions (sham, 4 mA) applied before and during an isokinetic fatigue test of the knee extensors and flexors. Subjects reported the severity of the sensations felt from tDCS. Primary outcomes were sensation tolerability and the fatigue index of the knee extensors and flexors. A repeated-measures ANOVA determined statistical significance (
    Language English
    Publishing date 2019-12-23
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2651993-8
    ISSN 2076-3425
    ISSN 2076-3425
    DOI 10.3390/brainsci10010012
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  7. Article: Transcranial Direct Current Stimulation (tDCS) to Improve Gait in Multiple Sclerosis: A Timing Window Comparison.

    Workman, Craig D / Kamholz, John / Rudroff, Thorsten

    Frontiers in human neuroscience

    2019  Volume 13, Page(s) 420

    Abstract: Unilateral weakness of the lower limb is a hallmark of multiple sclerosis (MS) and a significant contributor to the progressive worsening of walking ability. There are currently no effective rehabilitation strategies targeting strength asymmetries and/or ...

    Abstract Unilateral weakness of the lower limb is a hallmark of multiple sclerosis (MS) and a significant contributor to the progressive worsening of walking ability. There are currently no effective rehabilitation strategies targeting strength asymmetries and/or gait impairments in people with MS (PwMS). Transcranial direct current stimulation (tDCS) has improved motor outcomes in various populations, but the effect of tDCS on gait in PwMS and the ideal timing window of tDCS application are still unknown. This study investigated the effects of tDCS, either before or during a 6 min walk test (6MWT), on the distance walked and gait characteristics in PwMS. Twelve participants were recruited and randomly assigned into BEFORE or DURING groups (both
    Language English
    Publishing date 2019-11-28
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2425477-0
    ISSN 1662-5161
    ISSN 1662-5161
    DOI 10.3389/fnhum.2019.00420
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  8. Article ; Online: Cerebellar Contributions to Motor Impairments in People with Multiple Sclerosis.

    Fietsam, Alexandra C / Darling, Warren G / Sosnoff, Jacob J / Workman, Craig D / Kamholz, John / Rudroff, Thorsten

    Cerebellum (London, England)

    2021  Volume 21, Issue 6, Page(s) 1052–1060

    Abstract: Although Charcot characterized classic cerebellar symptoms in people with multiple sclerosis (PwMS) in 1877, the impact of cerebellar dysfunction on MS symptoms has predominately been evaluated in the last two decades. Recent studies have clearly ... ...

    Abstract Although Charcot characterized classic cerebellar symptoms in people with multiple sclerosis (PwMS) in 1877, the impact of cerebellar dysfunction on MS symptoms has predominately been evaluated in the last two decades. Recent studies have clearly demonstrated the association between cerebellar pathology, including atrophy and reduced fractional anisotropy in the peduncles, and motor impairments, such as reduced gait velocity and time to complete walking tasks. However, future studies using novel imaging techniques are needed to elucidate all potential pathophysiology that is associated with disability in PwMS. Additionally, future studies are required to determine the most effective treatments for motor impairments in PwMS, including the specific type and duration of exercise interventions, and potential means to amplify their effects, such as transcranial direct current stimulation (tDCS). This mini-review critically discusses the distinct role of cerebellar dysfunction in motor impairments in PwMS, potential treatments, and directions for future studies.
    MeSH term(s) Humans ; Multiple Sclerosis/complications ; Multiple Sclerosis/diagnostic imaging ; Multiple Sclerosis/therapy ; Transcranial Direct Current Stimulation/methods ; Motor Disorders/complications ; Cerebellum/physiology ; Cerebellar Diseases/diagnostic imaging ; Cerebellar Diseases/therapy ; Cerebellar Diseases/complications
    Language English
    Publishing date 2021-10-17
    Publishing country United States
    Document type Journal Article ; Review
    ZDB-ID 2112586-7
    ISSN 1473-4230 ; 1473-4222
    ISSN (online) 1473-4230
    ISSN 1473-4222
    DOI 10.1007/s12311-021-01336-6
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    In stock of ZB MED Cologne/Königswinter

    Zs.A 5795: Show issues Location:
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  9. Article ; Online: Altered high-energy phosphate and membrane metabolism in Pelizaeus-Merzbacher disease using phosphorus magnetic resonance spectroscopy.

    Laukka, Jeremy J / Kain, Kevin M / Rathnam, Anirudha S / Sohi, Jasloveleen / Khatib, Dalal / Kamholz, John / Stanley, Jeffrey A

    Brain communications

    2022  Volume 4, Issue 4, Page(s) fcac202

    Abstract: Pelizaeus-Merzbacher disease is an X-linked recessive leucodystrophy of the central nervous system caused by mutations affecting the major myelin protein, proteolipid protein 1. The extent of the ... ...

    Abstract Pelizaeus-Merzbacher disease is an X-linked recessive leucodystrophy of the central nervous system caused by mutations affecting the major myelin protein, proteolipid protein 1. The extent of the altered
    Language English
    Publishing date 2022-08-05
    Publishing country England
    Document type Journal Article
    ISSN 2632-1297
    ISSN (online) 2632-1297
    DOI 10.1093/braincomms/fcac202
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  10. Article: Response Variability in Transcranial Direct Current Stimulation: Why Sex Matters.

    Rudroff, Thorsten / Workman, Craig D / Fietsam, Alexandra C / Kamholz, John

    Frontiers in psychiatry

    2020  Volume 11, Page(s) 585

    Language English
    Publishing date 2020-06-19
    Publishing country Switzerland
    Document type Journal Article
    ZDB-ID 2564218-2
    ISSN 1664-0640
    ISSN 1664-0640
    DOI 10.3389/fpsyt.2020.00585
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