TSEN54 missense variant in Standard Schnauzers with leukodystrophy

We report a hereditary leukodystrophy in Standard Schnauzer puppies. Clinical signs occurred shortly after birth or started at an age of under 4 weeks and included apathy, dysphoric vocalization, hypermetric ataxia, intension tremor, head tilt, circling, proprioceptive deficits, seizures and ventr al strabismus consistent with a diffuse intracranial lesion. Magnetic resonance imaging revealed a diffuse white matter disease without mass effect. Macroscopically, the cerebral white matter showed a gelatinous texture in thecentrum semiovale. A mild hydrocephalus internus was noted. Histopathologically, a severe multifocal reduction of myelin formation and moderate diffuse edema without inflammation was detected leading to the diagnosis of leukodystrophy. Combined linkage analysis and homozygosity mapping in two related families delineated critical intervals of approximately 29 Mb. The comparison of whole genome sequence data of one affected Standard Schnauzer to 221 control genomes revealed a single private homozygous protein changing variant in the critical intervals,TSEN54:c.371G>A or p.(Gly124Asp).TSEN54 encodes the tRNA splicing endonuclease subunit 54. In humans, several variants inTSEN54 were reported to cause different types of pontocerebellar hypoplasia. The genotypes at the c.371G>A variant were perfectly associated with the leukodystrophy phenotype in 12 affected Standard Schnauzers and almost 1000 control dogs from different breeds. These results suggest thatTSEN...
Source: PLoS Genetics - Category: Genetics & Stem Cells Authors: Source Type: research

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Publication date: Available online 11 December 2019Source: Orthopaedics &Traumatology: Surgery &ResearchAuthor(s): Joong-Bae Seo, Sung-Joon Kim, Hee Jung Ham, Kwon Young Kwak, Jaesung YooAbstractBackgroundThe pathogenesis of degenerative subscapularis (SC) tear is not clear, several mechanisms are involved: intrinsic tendon degeneration or subcoracoid impingement. The aim of this study was to propose new radiographic markers, the coraco-lesser tuberosity angle (CLA), lesser tuberosity angle (LTA) and lesser tuberosity height (LTH). The hypothesis was that higher values of CLA, LTA, and LTH would be associated with ...
Source: Orthopaedics and Traumatology: Surgery and Research - Category: Orthopaedics Source Type: research
Source: Food and Drug Adminstration (FDA): CDRHNew - Category: Medical Devices Authors: Source Type: news
Conclusions: Poor cavity obliteration, a high rate of revision surgery and difficult differentiation between recurrent cholesteatoma and granulation tissue in CT scan was observed.
Source: Otology and Neurotology - Category: ENT & OMF Tags: MIDDLE EAR AND MASTOID DISEASE Source Type: research
Conclusions: In the treatment of VS with primary GK, maximum cochlear dose was significantly associated with facial paresis. Laterally extending tumors without fundal fluid on MRI experienced higher rates of facial paresis. These factors should be considered during GK treatment planning for VS.
Source: Otology and Neurotology - Category: ENT & OMF Tags: TUMORS OF THE EAR AND CRANIAL BASE Source Type: research
Conclusion: Tacrolimus, an immunosuppressant used to prevent rejection in organ transplant, could lead to VS volume shrinkage and hearing improvement. Tacrolimus could be an interesting new therapeutic weapon, especially for VS in Neurofibromatosis type 2.
Source: Otology and Neurotology - Category: ENT & OMF Tags: TUMORS OF THE EAR AND CRANIAL BASE Source Type: research
Conclusion: Results for quantitative evaluation were similar in both the sequences. Gadolinium injection can be avoided only in surveillance studies.
Source: Otology and Neurotology - Category: ENT & OMF Tags: TUMORS OF THE EAR AND CRANIAL BASE Source Type: research
Conclusion: This study did not find a diagnostic value of specific types of compression in patients with a NVC. Although the distribution of NVC classification was different in patients with unilateral and bilateral tinnitus, there was no definite relation between the type of NVC and the presence of ipsilateral tinnitus. Also, the degree of hearing loss was not related to specific types of NVC.
Source: Otology and Neurotology - Category: ENT & OMF Tags: BASIC SCIENCE Source Type: research
No abstract available
Source: Otology and Neurotology - Category: ENT & OMF Tags: IMAGING CASE OF THE MONTH Source Type: research
Conditions:   Strabismic Amblyopia;   Refractive Amblyopia;   Strabismus Intervention:   Diagnostic Test: objective pediatric vision screen, " blinq, " Sponsor:   Alaska Blind Child Discovery Completed
Source: ClinicalTrials.gov - Category: Research Source Type: clinical trials
CONCLUSION: This is the first observation of a heterozygous mutation in the MBD5 gene associated with a neuronal migration disorder. PMID: 31820818 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
More News: Ataxia | Genetics | Hydrocephalus | Leukodystrophies | MRI Scan | Strabismus (squint)