cerebellar cognitive affective syndrome is frequent in rfc1-related disorder
Objective: To describe the prevalence and clinical profile of cerebellar cognitive affective syndrome (CCAS) in patients with RFC1-related disorder. Background: Since the recent description of…A 78-year-old man with progressive ataxia, palatal tremor, parkinsonism and motor neuron disease.
Objective: To report a unique case of palatal tremor associated with parkinsonism, ataxia and motor neuron disease. Background: Progressive ataxia with palatal tremor (PAPT) is…Extended phenotypes of autosomal recessive cerebellar ataxia type 1: learn from a novel mutation of SYNE1 gene
Objective: Mutations in the synaptic nuclear envelope protein 1 (SYNE1) gene have been reported to cause ARCA type 1 with a remarkable heterogeneity in clinical…Volumetric analysis of the Corpus Callosum in Hereditary Cerebellar Ataxia
Objective: To analyze corpus callosum (CC) volumes on MRI in patients under follow-up for confirmed or suspected hereditary cerebellar ataxia Background: It is recognized that…CerebNet: Deep learning cerebellar subsegmentation for fast and reliable atrophy quantification
Objective: Establish a fast and reliable automatic tool for cerebellar subsegmentation. Background: Quantifying the volume of the cerebellum and its lobes is of profound interest…A bitter syndrome as a cause of refractory movement disorders
Objective: Submit a case of GLUT-1 deficiency for consideration in the differential diagnosis of movement disorders and refractory epilepsies because early treatment will prevent progressive…Gait ataxia and Autonomic dysfunction as early signs of Creutzfeldt-Jakob Disease: A Case Report
Objective: To highlight unusual early presenting symptoms of Sporadic Creutzfeldt-Jakob Disease (sCJD). Background: Prion diseases, a group of rare and fatal diseases caused by an…Two Different Clinical Presentations in SYNE1 Ataxia in Turkey
Objective: SYNE1 (Spectrin repeat-containing nuclear envelope protein 1) gene mutation, first diagnosed in French Canadians in 2007, is now reported from many regions around the…Cerebellar and other motor symptoms in Huntington’s Disease: A multiple scale correlation study
Objective: To describe the cerebellar symptoms and other accompanying movement disorders in Huntington's Disease (HD). Background: HD is a pathological entity whose etiological substrate is…LIG1 polymorphism modifies the age at onset in patients with Spinocerebellar Ataxia type 2
Objective: Assessing the role of LIG1 Exon 6 A→C polymorphism acting as a modifier of clinical severity in patients with Spinocerebellar ataxia type 2 (SCA2).…
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