Journal ArticleDOI
Cognitive and Psychiatric Evaluation in SYNE1 Ataxia
Maria Thereza Drumond Gama,Pedro Braga-Neto,Pedro Braga-Neto,Lívia Almeida Dutra,Helena Alessi,Lilia Alves Maria,Ary Gadelha,Bruno Bertolucci Ortiz,Ilda S. Kunii,Silvia Regina Correia-Silva,Magnus R. Dias da Silva,Patrick A. Dion,Guy A. Rouleau,Marcondes C. França,Orlando Graziani Povoas Barsottini,José Luiz Pedroso +15 more
TLDR
Results suggest that SYNE1 ataxia patients may represent a model to investigate effects of cerebellar degeneration in higher hierarchical cognitive functions, and abstract thinking impairment in schizophrenia may be related to dysfunction in cerebellum pathways.Abstract:
SYNE1 gene mutations were identified as a cause of late-onset pure cerebellar syndrome. Non-cerebellar symptoms, including cognitive impairment, were already described in this condition. The aim of this study was to perform a detailed cognitive and psychiatric description of patients with SYNE1 gene mutations. We performed neuropsychological and psychiatric evaluations of six patients with SYNE1 ataxia and compared their performance with 18 normal controls paired for age and education level. SYNE1 ataxia patients present cognitive dysfunction, characterized by impairment in attention and processing speed domains. Otherwise, the psychiatric assessment reported low levels of overall behavioral symptoms with only some minor anxiety-related complaints. Although this is a small sample of patients, these results suggest that SYNE1 ataxia patients may represent a model to investigate effects of cerebellar degeneration in higher hierarchical cognitive functions. For further studies, abstract thinking impairment in schizophrenia may be related to dysfunction in cerebellum pathways.read more
Citations
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SYNE1 mutation may enhance the response to immune checkpoint blockade therapy in clear cell renal cell carcinoma patients.
TL;DR: Mutation of SYNE1 correlates with a higher TMB and a poorer outcome in ccRCC, but may mediate better responses to ICB therapy, which is a potent marker for predicting the response to immune checkpoint blockade treatment.
Journal ArticleDOI
Autosomal Recessive Cerebellar Ataxia Type 1: Phenotypic and Genetic Correlation in a Cohort of Chinese Patients with SYNE1 Variants
TL;DR: The data indicating SYNE1 mutation is one of the more common causes of recessive ataxia in the Chinese population is indicated, further expanding the understanding of genotype-phenotype correlation.
Journal ArticleDOI
A Systematic Review of the Spectrum and Prevalence of Non‐Motor Symptoms in Adults with Hereditary Cerebellar Ataxias
TL;DR: Cerebellar ataxias comprise a large group of heterogeneous disorders with both motor and non-motor symptoms (NMS) as discussed by the authors , and include a large number of different types of disorders.
References
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Journal ArticleDOI
The Positive and Negative Syndrome Scale (PANSS) for Schizophrenia
TL;DR: Review of five studies involving the PANSS provided evidence of its criterion-related validity with antecedent, genealogical, and concurrent measures, its predictive validity, its drug sensitivity, and its utility for both typological and dimensional assessment.
Journal ArticleDOI
A rating scale for mania: reliability, validity and sensitivity.
TL;DR: The MRS score correlated highly with an independent global rating, and with scores of two other mania rating scales administered concurrently, and also correlated with the number of days of subsequent stay in hospital.
Journal ArticleDOI
The Global Assessment Scale: A procedure for measuring overall severity of psychiatric disturbance.
TL;DR: The relative simplicity, reliability, and validity of the GAS suggests that it would be useful in a wide variety of clinical and research settings.
Journal ArticleDOI
The cerebellar cognitive affective syndrome.
TL;DR: A constellation of deficits is suggestive of disruption of the Cerebellar modulation of neural circuits that link prefrontal, posterior parietal, superior temporal and limbic cortices with the cerebellum, called the 'cerebellar cognitive affective syndrome'.