BMC Medical Genomics, 2021 Background Joubert syndrome (JS) is a group of rare congenital disorders characterized by cerebellar vermis dysplasia, developmental delay, and retina dysfunctions.
Chunyan Chen +5 more
doaj +1 more source
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia [PDF]
, 2018 Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non ...
Bertini, Enrico +10 more
core +1 more source
Congenital Tremor With Spongy Degeneration of the Central Nervous System in Two Puppies [PDF]
Journal of Veterinary Internal Medicine, 1991 Two crossbred puppies exhibited a generalized tremor that was accentuated by excitement or voluntary movement. Hypermetria was also present. Neurohistologic examination showed a bilaterally symmetric spongy condition, predominantly of the gray matter in the brain and spinal cord.
M, Cachin, M, Vandevelde
openaire +2 more sources
Tremors in cats with hepatic encephalopathy-congenital portosystemic shunts or postattenuation neurological syndrome. [PDF]
Vet RecAbstract Background Tremors have been reported as a neurological sign in cats with hepatic encephalopathy due to congenital portosystemic shunts (HE‐CPSS) or postattenuation neurological syndrome (PANS).
Liatis T +3 more
europepmc +3 more sources
Prevalence of Linda Virus Neutralizing Antibodies in the Austrian Pig Population
Viruses, 2021 A novel pestivirus species, termed Lateral-shaking Inducing Neuro-Degenerative Agent virus (LindaV), was discovered in a piglet-producing farm in Austria in 2015 related to severe congenital tremor cases.
Alexandra Kiesler +8 more
doaj +1 more source
Protein structure and phenotypic analysis of pathogenic and population missense variants in STXBP1 [PDF]
, 2017 Background: Syntaxin-binding protein 1, encoded by STXBP1, is highly expressed in the brain and involved in fusing synaptic vesicles with the plasma membrane.
Baker, K +17 more
core +2 more sources
Circovirose suína Porcine circovirosis: a review
Pesquisa Veterinária Brasileira, 2005 Por meio de revisão da literatura pertinente foram coligidos e são apresentados os principais dados relativos aos aspectos epidemiológicos, clínicos, anátomo e histopatológicos observados na infecção por Circovírus Porcino tipo 2 (PCV-2) em suínos.
Ticiana do Nascimento França +3 more
doaj +1 more source
Mirror Movements in Movement Disorders: A Review
Tremor and Other Hyperkinetic Movements, 2012 Background: Mirror movements (MM) are involuntary movements of homologous muscles during voluntary movements of contralateral body regions. While subtle mirroring can be present in otherwise healthy adults, overt MM may be common in many movement ...
Benjamin C. Cox +2 more
doaj +1 more source
Severe hepatopathy and neurological deterioration after start of valproate treatment in a 6-year-old child with mitochondrial tryptophanyl-tRNA synthetase deficiency [PDF]
, 2018 Background: The first subjects with deficiency of mitochondrial tryptophanyl-tRNA synthetase (WARS2) were reported in 2017. Their clinical characteristics can be subdivided into three phenotypes (neonatal phenotype, severe infantile onset phenotype ...
De Bruyne, Ruth +9 more
core +1 more source
Congenital tremor in piglets: Is bovine viral diarrhea virus an etiological cause? [PDF]
Veterinary Microbiology, 2018 Congenital tremor in pigs involves several etiologies, including pestivirus, which may cause neurological injuries in different animal species. To evaluate whether bovine viral diarrhea virus (BVDV), an important pestivirus, is one of the etiological agents of congenital tremor in swine, gilts and the fetuses were challenged at 45 days of gestation ...
Mechler, Marina Lopes +7 more
openaire +3 more sources