TY  - JOUR
A1  - Petersen, Jens A.
A1  - Kuntzer, Thierry
A1  - Fischer, Dirk
A1  - von der Hagen, Maja
A1  - Veronika, Angela
A1  - Lobrinus, Johannes A.
A1  - Kress, Wolfram
A1  - Rushing, Elisabeth J.
A1  - Sinnreich, Michael
A1  - Jung, Hans H.
T1  - Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
JF  - BMC Neurology
N2  - Background: Dysferlin is reduced in patients with limb girdle muscular dystrophy type 2B, Miyoshi myopathy, distal anterior compartment myopathy, and in certain Ethnic clusters. Methods: We evaluated clinical and genetic patient data from three different Swiss Neuromuscular Centers. 
Results: Thirteen patients from 6 non-related families were included. Age of onset was 18.8 +/- 4.3 years. In all patients, diallelic disease-causing mutations were identified in the DYSF gene. Nine patients from 3 non-related families from Central Switzerland carried the identical homozygous mutation, c.3031 + 2T>C. A possible founder effect was confirmed by haplotype analysis. Three patients from two different families carried the heterozygous mutation, c.1064_1065delAA. Two novel mutations were identified (c.2869C>T (p.Gln957Stop), c.5928G>A (p.Trp1976Stop)). 
Conclusions: Our study confirms the phenotypic heterogeneity associated with DYSF mutations. Two mutations (c.3031 + 2T>C, c.1064_1065delAA) appear common in Switzerland. Haplotype analysis performed on one case (c.3031 + 2T>C) suggested a possible founder effect.
KW  - gene mutations
KW  - miyoshi myopathy
KW  - gridle muscular-dystrophy
KW  - features
KW  - deficiency
KW  - heterogeneity
KW  - 2B
KW  - italian patients
KW  - molecular analysis
KW  - membrane repair
Y1  - 2015
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-139920
VL  - 15
IS  - 182
ER  - 
TY  - JOUR
A1  - Luijten, Linda W G
A1  - Leonhard, Sonja E
A1  - van der Eijk, Annemiek A
A1  - Doets, Alex Y
A1  - Appeltshauser, Luise
A1  - Arends, Samuel
A1  - Attarian, Shahram
A1  - Benedetti, Luana
A1  - Briani, Chiara
A1  - Casasnovas, Carlos
A1  - Castellani, Francesca
A1  - Dardiotis, Efthimios
A1  - Echaniz-Laguna, Andoni
A1  - Garssen, Marcel P J
A1  - Harbo, Thomas
A1  - Huizinga, Ruth
A1  - Humm, Andrea M
A1  - Jellema, Korné
A1  - van der Kooi, Anneke J
A1  - Kuitwaard, Krista
A1  - Kuntzer, Thierry
A1  - Kusunoki, Susumu
A1  - Lascano, Agustina M
A1  - Martinez-Hernandez, Eugenia
A1  - Rinaldi, Simon
A1  - Samijn, Johnny P A
A1  - Scheidegger, Olivier
A1  - Tsouni, Pinelopi
A1  - Vicino, Alex
A1  - Visser, Leo H
A1  - Walgaard, Christa
A1  - Wang, Yuzhong
A1  - Wirtz, Paul W
A1  - Ripellino, Paolo
A1  - Jacobs, Bart C
T1  - Guillain-Barré syndrome after SARS-CoV-2 infection in an international prospective cohort study
JF  - Brain
N2  - In the wake of the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) pandemic, an increasing number of patients with neurological disorders, including Guillain-Barré syndrome (GBS), have been reported following this infection. It remains unclear, however, if these cases are coincidental or not, as most publications were case reports or small regional retrospective cohort studies. The International GBS Outcome Study is an ongoing prospective observational cohort study enrolling patients with GBS within 2 weeks from onset of weakness. Data from patients included in this study, between 30 January 2020 and 30 May 2020, were used to investigate clinical and laboratory signs of a preceding or concurrent SARS-CoV-2 infection and to describe the associated clinical phenotype and disease course. Patients were classified according to the SARS-CoV-2 case definitions of the European Centre for Disease Prevention and Control and laboratory recommendations of the World Health Organization. Forty-nine patients with GBS were included, of whom eight (16%) had a confirmed and three (6%) a probable SARS-CoV-2 infection. Nine of these 11 patients had no serological evidence of other recent preceding infections associated with GBS, whereas two had serological evidence of a recent Campylobacter jejuni infection. Patients with a confirmed or probable SARS-CoV-2 infection frequently had a sensorimotor variant 8/11 (73%) and facial palsy 7/11 (64%). The eight patients who underwent electrophysiological examination all had a demyelinating subtype, which was more prevalent than the other patients included in the same time window [14/30 (47%), P = 0.012] as well as historical region and age-matched control subjects included in the International GBS Outcome Study before the pandemic [23/44 (52%), P = 0.016]. The median time from the onset of infection to neurological symptoms was 16 days (interquartile range 12–22). Patients with SARS-CoV-2 infection shared uniform neurological features, similar to those previously described in other post-viral GBS patients. The frequency (22%) of a preceding SARS-CoV-2 infection in our study population was higher than estimates of the contemporaneous background prevalence of SARS-CoV-2, which may be a result of recruitment bias during the pandemic, but could also indicate that GBS may rarely follow a recent SARS-CoV-2 infection. Consistent with previous studies, we found no increase in patient recruitment during the pandemic for our ongoing International GBS Outcome Study compared to previous years, making a strong relationship of GBS with SARS-CoV-2 unlikely. A case-control study is required to determine if there is a causative link or not.
KW  - Guillain-Barré syndrome
KW  - COVID-19
KW  - SARS-CoV-2
KW  - preceding infections
KW  - clinical phenotype
Y1  - 2021
U6  - http://nbn-resolving.de/urn/resolver.pl?urn:nbn:de:bvb:20-opus-371609
VL  - 144
ER  -