• Disease
  • Small
  • Small Fiber
  • Catharina Gerritdina Faber

    Prominent publications by Catharina Gerritdina Faber

    KOL Index score: 13313

    OBJECTIVE: To assess the diagnostic utility of corneal confocal microscopy (CCM) for diabetic peripheral neuropathy (DPN) and the risk factors for corneal nerve loss.

    RESEARCH DESIGN AND METHODS: A total of 490 participants, including 72 healthy control subjects, 149 with type 1 diabetes, and 269 with type 2 diabetes, underwent detailed assessment of peripheral neuropathy and CCM in relation to risk factors.

    RESULTS: Corneal nerve fiber density (CNFD) (P < 0.0001 and P < 0.0001), corneal ...

    Also Ranks for: Type 2 Diabetes |  corneal nerve |  confocal microscopy |  diagnosis dpn |  cnbd cnfl
    KOL Index score: 11765

    The Na(V)1.7 sodium channel is preferentially expressed within dorsal root ganglion and sympathetic ganglion neurons and their small-diameter peripheral axons. Gain-of-function variants of Na(V)1.7 have recently been described in patients with painful small fibre neuropathy and no other apparent cause. Here, we describe a novel syndrome of pain, dysautonomia, small hands and small feet in a kindred carrying a novel Na(V)1.7 mutation. A 35-year-old male presented with erythema and burning ...

    Also Ranks for: Small Nerve |  nav17 mutation |  new syndrome |  sodium channel |  hot flashes
    KOL Index score: 11611

    Idiopathic small-fiber neuropathy (I-SFN), clinically characterized by burning pain in distal extremities and autonomic dysfunction, is a disorder of small-caliber nerve fibers of unknown etiology with limited treatment options. Functional variants of voltage-gated sodium channel Nav1.7, encoded by SCN9A, have been identified in approximately one-third of I-SFN patients. These variants render dorsal root ganglion (DRG) neurons hyperexcitable. Sodium channel Nav1.8, encoded by SCN10A, is ...

    Also Ranks for: Dorsal Root Ganglion |  drg neurons |  fiber neuropathy |  action potentials |  cultured ganglia
    KOL Index score: 11470

    OBJECTIVE: To develop a patient-based, linearly weighted scale that captures activity and social participation limitations in patients with Guillain-Barré syndrome (GBS), chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), and gammopathy-related polyneuropathy (MGUSP).

    METHODS: A preliminary Rasch-built Overall Disability Scale (R-ODS) containing 146 activity and participation items was constructed, based on the WHO International Classification of Functioning, Disability ...

    Also Ranks for: Disability Scale |  patients gbs |  cidp mgusp |  illness surveys |  preliminary rods
    KOL Index score: 11398

    Patients with small fibre neuropathy typically manifest pain in distal extremities and severe autonomic dysfunction. However, occasionally patients present with minimal autonomic symptoms. The basis for this phenotypic difference is not understood. Sodium channel Na(v)1.7, encoded by the SCN9A gene, is preferentially expressed in the peripheral nervous system within sensory dorsal root ganglion and sympathetic ganglion neurons and their small diameter peripheral axons. We recently ...

    Also Ranks for: Ganglion Neurons |  dorsal root |  fibre neuropathy |  autonomic symptoms |  sodium channel
    KOL Index score: 11321

    BACKGROUND: Small fiber neuropathy generally leads to considerable pain and autonomic symptoms. Gain-of-function mutations in the SCN9A- gene, which codes for the Nav1.7 voltage-gated sodium channel, have been reported in small fiber neuropathy, suggesting an underlying genetic basis in a subset of patients. Currently available sodium channel blockers lack selectivity, leading to cardiac and central nervous system side effects. Lacosamide is an anticonvulsant, which blocks Nav1.3, ...

    Also Ranks for: Small Fiber |  lacosamide patients |  randomized controlled trial |  tapering period |  study efficacy
    KOL Index score: 11176

    Myotonic dystrophy type 1 (DM1) is one of the most variable inherited human disorders. It is characterized by the involvement of multiple tissues and is caused by the expansion of a highly unstable CTG repeat. Variation in disease severity is partially accounted for by the number of CTG repeats inherited. However, the basis of the variable tissue-specific symptoms is unknown. We have determined that an unusual Dutch family co-segregating DM1, Charcot-Marie-Tooth neuropathy, ...

    Also Ranks for: Ctg Expansion |  mutational dynamics |  variant ccg |  1 patients |  myotonic dystrophy type
    KOL Index score: 11071

    Sodium channel Nav1.9 is expressed in peripheral nociceptive neurons, as well as visceral afferents, and has been shown to act as a threshold channel. Painful peripheral neuropathy represents a significant public health challenge and may involve gain-of-function variants in sodium channels that are preferentially expressed in peripheral sensory neurons. Although gain-of-function variants of peripheral sodium channels Nav1.7 and Nav1.8 have recently been found in painful small fibre ...

    Also Ranks for: Sodium Channel |  painful neuropathy |  function mutations |  small fibre |  patients peripheral
    KOL Index score: 11023

    OBJECTIVE: Small nerve fiber neuropathy (SFN) often occurs without apparent cause, but no systematic genetic studies have been performed in patients with idiopathic SFN (I-SFN). We sought to identify a genetic basis for I-SFN by screening patients with biopsy-confirmed idiopathic SFN for mutations in the SCN9A gene, encoding voltage-gated sodium channel Na(V)1.7, which is preferentially expressed in small diameter peripheral axons.

    METHODS: Patients referred with possible I-SFN, who met ...

    Also Ranks for: Nav17 Mutations |  idiopathic small fiber |  gain function |  isfn patients |  scn9a gene
    KOL Index score: 10969

    BACKGROUND: Painful diabetic polyneuropathy (PDP) is associated with high pain scores and is difficult to treat. Therefore, spinal cord stimulation (SCS) has been suggested as second-line treatment. In this study, the feasibility and efficacy of SCS in PDP were investigated, as well as the predictive value of clinical sensory testing for the treatment outcome.

    METHODS: Fifteen patients with intractable PDP in the lower limbs were recruited. During lead implantation, the feasibility of ...

    Also Ranks for: Painful Diabetic Polyneuropathy |  spinal cord |  quality life |  scs pdp |  trial stimulation
    KOL Index score: 10720

    BACKGROUND: Sodium channel NaV1.7 is preferentially expressed within dorsal root ganglia (DRG), trigeminal ganglia and sympathetic ganglion neurons and their fine-diamter axons, where it acts as a threshold channel, amplifying stimuli such as generator potentials in nociceptors. Gain-of-function mutations and variants (single amino acid substitutions) of NaV1.7 have been linked to three pain syndromes: Inherited Erythromelalgia (IEM), Paroxysmal Extreme Pain Disorder (PEPD), and Small ...

    Also Ranks for: Pain Syndromes |  patients nav17 |  function variant |  sodium channel |  autonomic symptoms
    KOL Index score: 10204

    BACKGROUND: Pulsed high-dose dexamethasone induced long-lasting remission in patients with chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) in a pilot study. The PREDICT study aimed to compare remission rates in patients with CIDP treated with high-dose dexamethasone with rates in patients treated with standard oral prednisolone.

    METHODS: In eight neuromuscular centres in the Netherlands and one in the UK, patients aged 18 years or older who had newly diagnosed definite ...

    Also Ranks for: Dose Dexamethasone |  patients remission |  prednisolone treatment |  inflammatory demyelinating |  predict study
    KOL Index score: 10053

    OBJECTIVE: Painful small fibre neuropathy (SFN) represents a significant public health problem, with no cause apparent in one-half of cases (termed idiopathic, I-SFN). Gain-of-function mutations of sodium channel NaV1.7 have recently been identified in nearly 30% of patients with biopsy-confirmed I-SFN. More recently, gain-of-function mutations of NaV1.8 have been found in patients with I-SFN. These NaV1.8 mutations accelerate recovery from inactivation, enhance the response to slow ...

    Also Ranks for: Small Fibre |  sodium channel |  drg neurons |  spinal humans |  neuron hyperexcitability
    KOL Index score: 9970

    OBJECTIVE: Achieving long-term remission after a limited more intense treatment period would prevent prolonged use of corticosteroids or IV immunoglobulin (IVIg) in chronic inflammatory demyelinating polyradiculoneuropathy (CIDP). In this prospective cohort study we present long-term follow-up data on patients included in a multicenter randomized controlled trial comparing 6 monthly pulses of dexamethasone with 8 months of daily prednisolone.

    METHODS: Treatment effect was assessed with ...

    Also Ranks for: Patients Cidp |  pulsed dexamethasone |  term remission |  prednisolone treatment |  chronic inflammatory
    KOL Index score: 9772

    We assessed whether a measure of more distal corneal nerve fibre loss at the inferior whorl(IW) region is better than proximal measures of central corneal nerve damage in relation to the diagnosis of diabetic peripheral neuropathy(DPN), painful DPN and quality of life(QoL). Participants underwent detailed assessment of neuropathy, QoL using the SF36 questionnaire, pain visual analogue score(VAS), and corneal confocal microscopy(CCM). Corneal nerve fibre density (CNFD), branch density ...

    Also Ranks for: Corneal Nerve |  inferior whorl |  painful diabetic |  patients dpn |  cnfl iwl


    Catharina Gerritdina Faber: Influence Statistics

    Sample of concepts for which Catharina Gerritdina Faber is among the top experts in the world.
    Concept World rank
    small fiber #1
    8–10 february #1
    activity 725 patients #1
    bbd cbbdq #1
    review muscle fatigue #1
    neuralgia small #1
    annual health supervision #1
    foot dorsum ttt #1
    presfnrods #1
    cidp rods #1
    mrc sum‐score #1
    minimum prevalence rates #1
    small fiber efficacy #1
    newspaper book #1
    faprods #1
    cohort sfn #1
    dm1activc scale #1
    netherlands chronic inflammatory #1
    alfa galactosidase #1
    dm1 stepwise investigation #1
    introduction contact heat #1
    isolated small fiber #1
    sfn demonstrated #1
    activc #1
    36 pdpn #1
    skin small fiber #1
    skin biopsy sfn #1
    aspects mcid concept #1
    demyelinating severity #1
    patients irods #1
    chep normative values #1
    normal chep #1
    3 additional infusions #1
    lacosamide placebo #1
    persons locations reliability #1
    additional underlying conditions #1
    pain small #1
    mrc sum‐score icu #1
    density normative #1
    skin biopsyproven isfn #1
    inqol qol #1
    item sfn #1
    sfn 13 #1
    rods scores #1
    sfn symptoms #1
    34item faprods #1
    fatigue immunemediated neuropathies #1
    neuropathy sfn #1

    Key People For Small Fiber

    Top KOLs in the world
    Giuseppe Lauria
    amyotrophic lateral sclerosis skin biopsy small fibre
    Claudia L Sommer
    neuropathic pain fabry disease fibromyalgia syndrome
    Raffaella Lombardi
    skin biopsy small fiber islet transplantation
    Catharina Gerritdina Faber
    small fiber neuropathic pain sodium channel
    Michael J Polydefkis
    skin biopsy peripheral neuropathy chronic pain
    Grazia Devigili
    neuropathic pain skin biopsy deep brain stimulation

    Catharina Gerritdina Faber:Expert Impact

    Concepts for whichCatharina Gerritdina Faberhas direct influence:Small fiber,  Neuropathic pain,  Sodium channel,  Small fibre,  Fabry disease,  Myotonic dystrophy type,  Fiber neuropathy,  Outcome measures.

    Catharina Gerritdina Faber:KOL impact

    Concepts related to the work of other authors for whichfor which Catharina Gerritdina Faber has influence:Neuropathic pain,  Small fiber,  Chronic inflammatory,  Myotonic dystrophy type,  Sodium channel,  Skin biopsy,  Spinal cord stimulation.



    Is this your profile? manage_accounts Claim your profile content_copy Copy URL code Embed Link to your profile

    Department of Neurology, School of Mental Health and Neuroscience, Maastricht University Medical Center+, Maastricht, Netherlands. | Department of Neurology, Maastricht University Medical Centre, 6229 HX Maastricht, The Netherlands;, bianca.greef@mum