Quantitative evaluation of speech characteristics in Assessment of Motor Speech for Dysarthria (AMSD) using acoustic analysis
Objective: This study aims to extract acoustic features from speech data obtained from patients undergoing the Assessment of Motor Speech for Dysarthria (AMSD), a clinical…Case Series of 13 Hereditary Ataxia Patients From The Chiloe Islands, Chile.
Objective: To describe a case series of HA patients from Chiloé, identifying genetic variants and analyzing phenotypes. Background: The Chiloé Islands, located in southern Chile,…A Rare Case of Dipeptidyl-peptidase-like protein 6 (DPPX) Antibody-Associated Encephalitis
Objective: To describe a case of DPPX antibody-associated encephalitis to facilitate early diagnosis and treatment. Background: DPPX antibody-associated encephalitis can be challenging to diagnose due…Imbalance and falls in individuals with Hereditary Spastic Paraplegia
Objective: The aim of this systematic review is to assess imbalance and falls in patients with HSP through a systematic and comprehensive evaluation of the…Refractory Orthostatic Hypotension, Anterocollis Predominant Cervical Dystonia and Parkinsonism Associated with a Previously Undiscovered SYT14 Gene Mutation
Objective: We present a case of a patient with spinocerebellar ataxia symptoms associated with a previously unknown mutation of the SYT14 gene. Background: Spinocerebellar ataxias…Autoimmune GFAP astrocytopathy as an Etiology of Opsoclonus-Myoclonus-Ataxia Syndrome
Objective: To report a case of opsoclonus-myoclonus-ataxia syndrome (OMAS) due to autoimmune GFAP astrocytopathy. Background: OMAS is associated with brainstem pathology. In adults, common causes…Clinical and epidemiological characterization of patients with cerebellar ataxia in a reference center in Northeastern Brazil
Objective: To describe the epidemiological and clinical characteristics of patients with cerebellar ataxia in a Movement Disorders outpatient clinic at a public reference center in…An Atypical Case of Ataxia and Hyperkinetic Movements
Objective: The objective of this case study is to highlight a rare neurological manifestation of Sjogren's disease. Background: The neurological manifestations of Sjogren’s disease can…Predictive clinical factors for the faster progression from idiopathic late-onset cerebellar ataxia to multiple system atrophy cerebellar type
Objective: Our study aims to investigate the clinical parameters associated with faster conversion from late-onset cerebellar ataxia (ILOCA) to multiple system atrophy cerebellar type (MSA-C)…Phenotypic, Genotypic, Imaging and Neuropsychological Profile of Friedreich Ataxia
Objective: 1. To characterise the phenotypic and genotypic spectrum of patients with Friedreich Ataxia2. To describe the imaging findings and to assess the neuropsychological profile…
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