K. Claeys's research while affiliated with Universitair Ziekenhuis Leuven and other places

Publications (25)

Article
Objectives To discover new and detect known antisynthetase autoantibodies (ASAs) through protein immunoprecipitation combined with gel-free liquid chromatography-tandem mass spectrometry (IP-MS). Methods IP-MS was performed using sera of individuals showing features of antisynthetase syndrome (ASyS) without (n=5) and with (n=12) previously detecte...
Article
Background and aims: Rare life-threatening conditions, such as multisystemic hereditary transthyretin amyloidosis (ATTRv) polyneuropathy, are often underdiagnosed or diagnosed late in the disease course, although early diagnosis is crucial for treatment success. Red flag symptoms have been identified, but manual screening of multidisciplinary medi...
Article
Full-text available
Introduction Myasthenia gravis (MG) is a rare, chronic, autoimmune disease, mediated by immunoglobulin G antibodies, which causes debilitating muscle weakness. As with most rare diseases, there is little patient-reported data with which to understand and address patient needs. This study explores the impact of MG in the real world from the patient...
Article
The patient, a boy born in 1991, showed pronounced polyostotic fibrous dysplasia due to McCune-Albright syndrome, as well as Gilbert syndrome and Charcot-Marie-Tooth neuropathy caused by a DNM2 mutation. In addition, the patient, his sister, mother and maternal grandfather had intermittently increased plasma arginine and lysine levels, most probabl...
Article
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Background: Late-onset Pompe disease (LOPD) is a rare, hereditary, progressive disorder that is usually characterized by limb-girdle muscle weakness and/or respiratory insufficiency. LOPD is caused by mutations in the acid alpha-glucosidase (GAA) gene and treated with enzyme replacement therapy (ERT). Methods: We studied the clinical, brain imag...
Article
Heterozygous mutations in the stromal interaction molecule-1-gene (STIM1) cause a clinical phenotype varying from tubular aggregate myopathy with single or multiple signs of Stormorken syndrome to the full Stormorken phenotype. We identified a novel heterozygous mutation c.325C>T (p.H109Y) in the EF-hand domain of STIM1 in six patients of a large B...
Article
Background: The Guillan-Barré syndrome (GBS) is the most common acute disease of the peripheral nervous system, often necessitating ICU care. Although no clear paraneoplastic syndrome has been defined, it has been known to occur together with several types of cancer. Methods: We present the case of a 35-year-old man with acute flaccid paralysis...
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Aims: Pompe disease is caused by pathogenic mutations in the alpha 1,4-glucosidase (GAA) gene and in patients with late onset Pome disease (LOPD), genotype-phenotype correlations are unpredictable. Skeletal muscle pathology includes glycogen accumulation and altered autophagy of various degrees. A correlation of the muscle morphology with clinical...
Article
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Purpose: Noninvasive prenatal screening (NIPS) using genome sequencing also reveals maternal copy-number variations (CNVs). Those CNVs can be clinically actionable or harmful to the fetus if inherited. CNVs in the DMD gene potentially causing dystrophinopathies are among the most commonly observed maternal CNVs. We present our experience with mate...
Article
The aim of this article is to create a recommendation on the most effective pharmacologic treatment of painful polyneuropathy in an adult population in the non-specialist pain care in Belgium. This paper results from a systematic review of guidelines on the pharmacological treatment of painful polyneuropathies, diabetic painful polyneuropathy or n...
Article
Previous MRI and proton spectroscopy ( ¹ H-MRS)studies have revealed impaired neuronal integrity and altered neurometabolite concentrations in the motor cortex of patients with amyotrophic lateral sclerosis (ALS). Here, we aim to use MRI with conventional and novel MRS sequences to further investigate neurometabolic changes in the motor cortex of A...
Article
Purpose of review: We will give an overview of neuromuscular disorders that can be linked with malignant hyperthermia or malignant hyperthermia-like reactions, and suggest an appropriate approach to interpret the risks. Recent findings: An increasing number of neuromuscular phenotypes have been linked to malignant hyperthermia susceptibility (MH...
Article
Full-text available
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonu...
Conference Paper
Background Myositis-specific autoantibodies (MSA) are increasingly recognized as important diagnostic and prognostic markers in idiopathic inflammatory myopathies (IIM) (polymyositis, dermatomyositis, sporadic inclusion body myositis and necrotizing autoimmune myositis). The prevalence of these MSAs in other systemic autoimmune rheumatic diseases a...
Article
Importance: Hepatitis E virus (HEV) recently has been shown to be an antecedent infection in Guillain-Barré syndrome (GBS), but the clinical spectrum of HEV-associated GBS is not yet documented, and diagnosing acute HEV infection can be a challenge. Objectives: To determine the prevalence of HEV-associated GBS in a Belgian cohort, study the clin...

Citations

... In recent years, interest has been growing in the emotional, socio-familial, and humanistic aspects of MG, as well as the effects of medical interventions on disease burden [6][7][8][9][10]. This scenario is especially crucial for patients with treatment-refractory MG [11,12]. ...
... Recessive STIM1 and ORAI1 loss-of-function (LoF) mutations inhibit SOCE and Ca 2+ store refill and cause immunodeficiency (IMD9 and IMD10, OMIM # 612782, #612783), characterized by recurrent and chronic infections, autoimmunity, muscular hypotonia, mydriasis, and amelogenesis imperfecta [1,7,8]. By contrast, dominant STIM1 and ORAI1 gain-of-function (GoF) mutations induce SOCE overactivity and excessive Ca 2+ entry and give rise to tubular aggregate myopathy (TAM) and Stormorken syndrome (STRMK) (OMIM #160565, #615883), two clinically overlapping disorders associating childhood-onset muscle weakness with miosis, ichthyosis, short stature, hyposplenism, thrombocytopenia, and dyslexia [9][10][11][12][13][14][15][16][17][18]. In analogy to the human disorders, mice either lacking Stim1 or Orai1, or carrying GoF mutations in these genes respectively recapitulate the main clinical signs of immunodeficiency or TAM/STRMK [19][20][21][22], and represent valuable tools to investigate disease progression, uncover the underlying pathomechanisms, and identify therapeutic targets. ...
... Cerebellar Ataxia, Neuropathy and Vestibular Areflexia Syndrome (CANVAS) is an autosomal recessive neurodegenerative disease characterized by adult onset and slowly progressive ataxia caused by the contemporary impairment of sensory neurons, the vestibular system and the cerebellum 1-3 . In most cases, the disease is caused by biallelic (AAGGG) n repeat expansion in the second intron of the Replication Factor Complex subunit 1 (RFC1) gene [4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21] . RFC1 encodes the large subunit of replication factor C, a 5-subunit DNA polymerase accessory protein required for the coordinated synthesis of both DNA strands during replication and after DNA damage. ...
... Respiratory insufficiency may precede limb-girdle muscle weakness [16]. It has been described as the second most frequent initial symptom of the disease in 11-13% of patients [18,34]. Respiratory problems have been reported in 33-60% of patients at diagnosis [15,34]. ...
... Reports of papillary thyroid cancer leading to paraneoplastic phenomena are particularly scarce. However, some associations have been reported, namely with neurological manifestations [4][5][6][7], dermatomyositis and polymyositis [8][9][10], mixed connective tissue disease [11], polyarthritis [12], Raynaud's phenomenon [13] and syndrome of inappropriate antidiuresis [14]. ...
... The latter method also enables the detection of other fetal aneuploidies, segmental imbalances, and copy-number variations (CNVs) (3)(4)(5)(6). Moreover, since the cfDNA is largely of maternal origin, not only fetal, but also maternal CNVs can be detected, the latter at a much higher resolution than fetal CNVs (7)(8)(9)(10). ...
... Technological advances in MR hardware and spectral acquisition and editing methods have increased the ability to more readily resolve such metabolites. For example, this includes ultra-high field studies at 7 tesla for glutamate, glutamine, and GABA (160,161) and MEGA-PRESS for GABA (162,163) detection. Combined PET-MR imaging with MRS provides the opportunity to explore complementary pathological or pathophysiological mechanisms simultaneously from the molecular and neurochemical perspectives. ...
... Since recent reports indicated that alcohol-induced AF is mediated by sarcoplasmic reticulum Ca 2+ leak due to cardiac ryanodine receptor (RyR2) dysfunction 13,14 , we hypothesized that stabilizing the RyR2 would be effective in preventing binge drinking enhanced AF. Dantrolene is a known ryanodine receptor stabilizer used to treat malignant hyperthermia (due to RyR1 dysfunction in skeletal muscle) 15 . Dantrolene has also been demonstrated to stabilize RyR2 and may attenuate cardiac arrhythmias in some cardiac pathologies, such as in heart failure (HF) and A C C E P T E D catecholaminergic polymorphic ventricular tachycardia [16][17][18] . ...
... Anti-HMGCR antibodies persist even after cessation of statin therapy [107] and despite clinical improvement following immunosuppressive therapy. ...