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).…NUS1 Mutation Causing Ataxia, Myoclonus, and Progressive Encephalopathy
Objective: Describe a rare cause of progressive myoclonus, ataxia, developmental delay Background: 37-year-old man with normal birth but delays in developmental milestones presented for evaluation…Impaired reinforcement learning in patients with cerebellar ataxia
Objective: To further characterize cerebellar learning processes as well as learning impairment pattern in patients with cerebellar dysfunction. Background: Supervised learning (i.e., learning from error)…Diagnostic algorithm in recessive and sporadic early-onset ataxias
Objective: To develop a diagnostic algorithm that allows to differentiate recessive or sporadic ataxias by the clinical phenotype, biochemical markers and neuroimaging studies of the…Sporadic progressive ataxia and palatal tremor: a case series
Objective: To further characterize the clinical syndrome of sporadic progressive ataxia and palatal tremor (PAPT). Background: Defined by adult-onset progressive cerebellar features and tremor of…Cerebellar and other motor symptoms relationship with MRI features in Huntington disease.
Objective: To analyze the relationship between motor scales and brain magnetic resonance imaging (MRI) features in a cohort of Huntington disease (HD) patients. Background: Cerebellar…
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