Startle disease in Irish wolfhounds associated with a microdeletion in the glycine transporter GlyT2 gene [PDF]
Neurobiology of Disease, 2011 Defects in glycinergic synaptic transmission in humans, cattle, and rodents result in an exaggerated startle reflex and hypertonia in response to either acoustic or tactile stimuli.
Jennifer L. Gill +7 more
doaj +4 more sources
Startle disease—hyperekplexia (two sibling cases)
Seizure, 1996 Two sisters aged 12 and 13 applied to our hospital with complaints of jerking tonic contraction triggered by sudden noise. Diffuse bilaterally polyspike-wave discharges appeared on waking electroencephalography and during that time a startle-induced tonic contraction was seen.
Altunbaşak Ş., Baytok V.
core +4 more sources
The effects of auditory startle and nonstartle stimuli on step initiation in Parkinson's disease [PDF]
Movement Disorders, 2012 AbstractBackground:Auditory external cues enhance step initiation in Parkinson's disease (PD) patients. We wanted to explore whether a startle reaction has a comparable effect on step initiation in PD.Methods:Thirteen PD patients and 13 aged‐matched controls participated in this study.
Fernández del Olmo, Miguel +5 more
openaire +6 more sources
Anxiety and Startle Phenotypes in Glrb Spastic and Glra1 Spasmodic Mouse Mutants [PDF]
Frontiers in Molecular Neuroscience, 2020 A GWAS study recently demonstrated single nucleotide polymorphisms (SNPs) in the human GLRB gene of individuals with a prevalence for agoraphobia. GLRB encodes the glycine receptor (GlyRs) β subunit.
Natascha Schaefer +8 more
doaj +2 more sources
Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects. [PDF]
Neurol Genet, 2022 BACKGROUND AND OBJECTIVES: Neurodevelopmental disorder with spastic diplegia and visual defect (NEDSDV) is a recently described rare syndrome caused by loss-of-function variations in CTNNB1 gene which includes developmental delay, intellectual deficiency,
Bulot V +3 more
europepmc +2 more sources
Dual Role of Dysfunctional Asc-1 Transporter in Distinct Human Pathologies, Human Startle Disease, and Developmental Delay. [PDF]
eNeuro, 2023 Human startle disease is associated with mutations in distinct genes encoding glycine receptors, transporters or interacting proteins at glycinergic synapses in spinal cord and brainstem. However, a significant number of diagnosed patients does not carry
Drehmann P +7 more
europepmc +2 more sources
The startle disease mutation α1S270T predicts shortening of glycinergic synaptic currents. [PDF]
J Physiol, 2020 KEY POINTS: Loss-of-function mutations in proteins found at glycinergic synapses, most commonly in the α1 subunit of the glycine receptor (GlyR), cause the startle disease/hyperekplexia channelopathy in man.
Wu Z +5 more
europepmc +2 more sources
CTNNB1-related disorders: clinical and radiological contributions from a French cohort [PDF]
Frontiers in NeurologyCTNNB1 monoallelic pathogenic variants account for up to 4% of genetically determined cerebral palsy cases, yet their phenotypic spectrum remains poorly defined.
Eline Chauvet-Piat +32 more
doaj +2 more sources
STARDEV Study: Neurodevelopmental Trajectory and Long-Term Outcomes of Patients with Startle Disease/Hyperekplexia. [PDF]
Mov Disord Clin PractInternational audienceBackground Although initial clinical presentation of hyperekplexia/startle disease is well known, data regarding long‐term clinical outcomes is lacking.
Pina D +19 more
europepmc +2 more sources
Frontiers in Neurology, 2020 Here, we report the case of a 63-year-old woman affected by abnormal, excessive, and involuntary reactions to harmless and unexpected sensory stimuli, compatible with the diagnosis of hyperekplexia.
Annibale Antonioni +2 more
doaj +1 more source