CACNA1A gene variants are correlated with different disorders, including episodic ataxia type 2, spinocerebellar ataxia type 6, and familial hemiplegic migraine type 1. Despite dystonia not being a typical manifestation of CACNA1A variants, there are reports indicating a link between this gene muta...
oromandibular dystonia (OMD) abnormal repetitive contractions of masticatory, facial, and lingual muscles as well as the presence of orobuccolingual (OBL) dyskinesias may interfere with the appropriate performance of tasks such as chewing and swallowing leading to significant dysphagia and weight loss....
pain, insomnia, post-traumatic stress disorder, anxiety, loss of appetite, Tourette’s syndrome, and epilepsy.Cannabishas also been associated with treatment for glaucoma, Huntington’s Disease, Parkinson’s Disease, and dystonia, but there is not good evidence to support its efficacy. Side effects...
Nowadays is recognized a role of other structures, such as cerebellum, thalamus, midbrain, and cortex in the pathogenesis of primary dystonia, and recent findings suggest that dystonia is a dynamic disorder related to abnormal cells function instead of cell loss, due to global brain networks abnor...
et al. Hyperkinetic disorders and loss of synaptic downscaling. Nat. Neurosci. 19, 868–875 (2016). Article CAS PubMed Google Scholar Martella, G. et al. Impairment of bidirectional synaptic plasticity in the striatum of a mouse model of DYT1 dystonia: role of endogenous acetylcholine. ...
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Double staining IHC was per- formed for torsinA and ChAT using an automated immu- nostainer (Leica Bond-Max, Buffalo Grove, IL). Western blot analysis was performed with anti-torsinA on fresh- frozen control human brain tissue lysates and appropriate molecular weight labeling for the torsinA ...
VPS16 has been reported to be enriched in the brain and nervous system and co-localize with syntaxin-1 in the neuronal processes and axonal outgrowths22. However, it has not yet been reported to be related to any diseases. Interestingly, loss of one of its major interactors, VPS18, led ...
These movements are extremely limiting and have led to difficulty eating and noticeable weight loss. Her medical history is significant for a mood disturbance, and her maternal grandmother had an undiagnosed gait disorder. The brain MRI showed cerebellar atrophy (Figure). Whole-exome sequencing found...
inspector who presented with unusual symptoms including involuntary forward bending of the head and neck, trunk leaning to the left, low volume speech, erectile dysfunction, chest discomfort when supine, disturbed sleep, clumsiness, thinning of the right leg, weight loss, and other neurol...