Background
Gordon Holmes syndrome (GHS) is a rare autosomal recessive disorder characterized by hypogonadotropic hypogonadism, cognitive decline, and cerebellar ataxia. Mutations in the Ring Finger Protein 216 (RNF216) gene have been known to be associated with GHS therewithal RNF216 mutations have been detected in cases with Huntington-like disease, 4H syndrome (hypodontia, hypomyelination, ataxia and hypogonadotropic hypogonadism), and congenital hypogonadotropic hypogonadism.
Case presentation
Here we report a novel homozygous frameshift mutation in RNF216 gene c.1860_1861dupCT (p.Cys621SerfsTer56) in a patient with hypogonadotropic hypogonadism, ataxia, and cognitive decline diagnosed with GHS also co-occurrence of parkinsonism and dystonia which was not reported before.
Conclusions
We report an extremely rare case of GHS. The core features of GHS are well defined, but genotype–phenotype correlations are still limited. To understand the pathophysiology of different phenotypes, the type and localization of novel mutations need to be defined, and the effect of these different variants on clinical features needs to be determined. Further studies should explain the factors of phenotypic variability present in GHS patients with RNF216 mutations.
Background
Face
and facial expression recognition abilities have been frequently evaluated in the assessment of social cognition disorders in patients with MS. Investigation of the effect of new difficulties emerging in the field of face recognition with the widespread use of masks during the ongoing COVID-19 pandemic on patients with MS may make new contributions to the literature.
Material and methods
The study included 44 patients with relapsing–remitting MS (RRMSp) and 51 controls who were matched to the case group in terms of age and education level. The Benton face recognition test-short form (BFRT-sf), Beck Depression Inventory, a close-ended 13-item survey on face recognition difficulties due to mask use during the pandemic was administered to all groups.
Results
In the RRMSp, the mean disease duration was 8.2 ± 5.6, the mean EDSS score was 1.2 ± 1.0, and the mean MOCA test score was 27.23 ± 2.08. The mean BFRTsf was 19.9 ± 2.4 in the RRMSp and 21.6 ± 1.8 in the healthy controls.Twenty-five percent of RRMSp and 4% of the healthy controls required people to remove their masks to be able to recognize their faces. Improvement in face recognition difficulty over time was reported as 80% in the healthy controls and 34% in the RRMSp.
Conclusion
RRMSp had worse performance in masked face recognition and required removal of the facial masks more often than healthy controls to recognize the faces. RRMS patients did not show as much improvement in recognizing masked faces over time according to the onset of the pandemic as healthy controls.
ABSTRACT. Patients with Parkinson’s disease (PwP) have face recognition difficulties. Objective: This study aimed to evaluate the difficulties of PwP in recognizing masked faces during the COVID-19 pandemic. Methods: A total of 64 PwP, 58 age-matched older healthy controls (OHCs), and 61 younger healthy controls (YHCs) were included in the study. The Benton Face Recognition Test - short form (BFRT-sf) and the 13-item questionnaire on face recognition difficulties due to masks during the pandemic developed by the authors were applied to all three study groups. Results: Both the PwP and OHC groups scored worse in BFRT-sf when compared with the YHC group (p<0.001 and p<0.001, respectively). The number of those who had difficulty in recognizing people seen every day and the number of those who asked people to remove their masks because they did not recognize them were higher in the PWP group (p=0.026 and p=0.002, respectively). The number of individuals who looked at the posture and gait of people when they did not recognize their masked faces and those who stated that this difficulty affected their daily lives were higher in the OHC group (p=0.002 and p=0.009, respectively). The number of participants whose difficulty in recognizing masked faces decreased over time was higher in the YHC group (p=0.003). Conclusions: The PwP group demonstrated similar performance to their peers but differed from the YHC group in recognizing masked faces. Knowing difficulties experienced by elderly people in recognizing people who are masked can increase awareness on this issue and enhance their social interaction in pandemic conditions through measures to be taken.
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