Exploratory study of dorsal visual stream dysfunction in autism; A case series

ConclusionsWe conclude that mechanisms driving OA (which is defined as ‘impaired visually guided movement’) may underpin severe motor impairment, in autism. CVIS and VMIS may be useful indicators of severity of spatial cognitive impairment.
Source: Research in Autism Spectrum Disorders - Category: Psychiatry Source Type: research

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This study has focused on verifying the presence of FMR1 expanded alleles since there is a lack of information about this kind of mutation in autism patients from the northern region of Brazil. The presence of large alleles for this gene could offer new therapeutic or pharmacological methods for the treatment of these patients. Both the presence and the frequency of CGG expansions were verified in 90 autism males by molecular analysis. Four of them had intermediate alleles and four others presented premutated alleles. Premutation carriers are on the propensity of developing the late onset Fragile X-associated tremor/ataxia...
Source: An Acad Bras Cienc - Category: Science Authors: Tags: An Acad Bras Cienc Source Type: research
Publication date: Available online 20 September 2019Source: Pharmacological ResearchAuthor(s): Sweta Bawari, Devesh Tewari, Sandro Argüelles, Archana N. Sah, Seyed Fazel Nabavi, Suowen Xu, Rosa Anna Vacca, Seyed Mohammad Nabavi, Samira ShirooieAbstractNeurodegenerative disorders like Alzheimer’s disease, Huntington’s disease, Parkinson’s disease, spinocerebellar ataxias, amyotrophic lateral sclerosis, frontotemporal dementia to prion diseases, Friedreich’s ataxia, hereditary spastic paraplegia and optic atrophy type 1, and behavior disorders like neuropsychiatric, hyperactivity and autism spect...
Source: Pharmacological Research - Category: Drugs & Pharmacology Source Type: research
Abstract A patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and ne...
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
AbstractA patient diagnosed with developmental delay, intellectual disability, and autistic and obsessive-compulsive symptoms was found to have a posterior fossa arachnoid cyst (PFAC) compressing the cerebellum. The patient was referred to our Ataxia Unit for consideration of surgical drainage of the cyst to improve his clinical constellation. This scenario led to an in-depth analysis including a literature review, functional resting-state MRI analysis of our patient compared to a group of controls, and genetic testing. While it is reasonable to consider that there may be a causal relationship between PFAC and neurodevelop...
Source: The Cerebellum - Category: Neurology Source Type: research
We report on the most advanced techniques for manipulating cerebellar circuits in humans and animal models and define key hurdles and questions for moving forward. PMID: 31165428 [PubMed - as supplied by publisher]
Source: Cerebellum - Category: Neuroscience Authors: Tags: Cerebellum Source Type: research
We report on the most advanced techniques for manipulating cerebellar circuits in humans and animal models and define key hurdles and questions for moving forward.
Source: The Cerebellum - Category: Neurology Source Type: research
Fragile X syndrome(FXS) is most common congenital hereditary disease of low intelligence after Down Syndrome. Its main pathogenic gene is Fragile X mental retardation 1 (FMR1) gene associated with intellectual disability, autism and Fragile X-related primary ovarian insufficiency (FXPOI) and Fragile X-associated tremor/ataxia syndrome (FXTAS). Fmr1 gene transcription leads to the absence of fragile X mental retardation protein (FMRP). How to relieve or cure disorders associated with FXS has also become a clinically disturbing problem. Previous studies have recently shown that Long noncoding RNAs (lncRNA) contribute to the ...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
Albert Sanfeliu1, Karsten Hokamp2, Michael Gill1 and Daniela Tropea1,3*1Neuropsychiatric Genetics, Department of Psychiatry, School of Medicine, Trinity Translational Medicine Institute, St James Hospital, Dublin, Ireland2Department of Genetics, School of Genetics and Microbiology, Smurfit Institute of Genetics, Trinity College Dublin, Dublin, Ireland3Department of Psychiatry, School of Medicine, Trinity College Institute for Neuroscience, Trinity College Dublin, Dublin, IrelandRett syndrome is a rare neuropsychiatric disorder with a wide symptomatology including impaired communication and movement, cardio-respiratory abno...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
Conclusion The key problem with the ND field is the lack of understanding in the events preceding the development of protein-based markers – such as Tau – currently used to diagnose NDs. By this stage, the diseases become more difficult to treat. SncRNAs play an important regulatory role in the maintenance of the homeostatic brain. Therefore, changes in their concentration levels can be indicative of mechanistic changes that could precede protein-based markers. One single sncRNA biomarker is unlikely to differentiate between diseases. However, a combination of sncRNA biomarkers could be illustrative of the me...
Source: Frontiers in Genetics - Category: Genetics & Stem Cells Source Type: research
We report on a 38-year-old patient with adult-onset psychotic symptoms on a background of infantile-onset seizures, autistic features and episodic ataxia. Whole-exome sequencing revealed a de-novo novel SCN2A mutation (c.4966T > C, p.Ser1656Pro). This and other SCN2A mutations associated with the schizophrenia phenotype overlap those seen in neurodevelopmental disorders, suggesting a common underlying mechanism. This is the first report of a patient with the entire known SCN2A phenotypic spectrum. We highlight the importance of recognizing the psychiatric phenotypes associated with SCN2A mutations and that...
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Brief Reports Source Type: research
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