First Reported Case of Parkinsonism in a Patient with Argininosuccinate Lyase Deficiency
Objective: The purpose of this case report is to detail the phenotype of parkinsonism encountered in a patient with Argininosuccinate Lyase Deficiency (ASLD) that has…Absence of depression in de novo Parkinson’s disease: a benign motor phenotype?
Objective: This study aimed to assess the impact of early depression on motor deficits relative to the level of striatal dopaminergic depletion in patients with…Serum uric acid levels and freezing of gait in Parkinson’s disease
Objective: To investigate the relationship between serum Uric acid (UA) levels and freezing of gait (FOG) in Parkinson’s disease (PD). Background: UA is a natural…Leg Stereotypy Disorder: Clinical Characteristics and Prevalence
Objective: To describe phenomenology and prevalence of leg stereotypy disorder (LSD) Background: LSD is characterized chiefly by repetitive, rhythmical, stereotyped leg movement when sitting (Jankovic…The French version of the Munich Dysphagia Test-Parkinson’s disease (MDT-PD): Translation and validation in a multilingual population of the Luxembourg Parkinson’s Study (HELP-PD).
Objective: To provide and validate a French translation of the MDT-PD in the Luxembourgish multilingual population, in terms of linguistic, test-retest-, language reliability and sensitivity.…Tic Severity and Treatment in Children: The Effect of Comorbid Attention Deficit Hyperactivity Disorder and Obsessive Compulsive Behaviours
Objective: This study sought to understand how the presence, severity and treatment of Attention Deficit Hyperactivity Disorder (ADHD) and Obsessive Compulsive Disorder (OCD) influence tic…Rationale and Design of a Phase 2 Study to Evaluate the Efficacy of Intepirdine (RVT-101) in Improving Gait and Balance in Patients with Dementia
Objective: To describe the rationale and design of a Phase 2 study that evaluates the effect of intepirdine (RVT-101) on gait and balance in patients…Parkinsonics – A Prospective, Randomized, Blinded, Cross-Over Trial of Group Singing for Motor and Non-Motor Symptoms in Idiopathic Parkinson Disease (PD)
Objective: To assess the effects of weekly group singing on PD patients’ objective vocal and motoric function, cognition, mood, self-efficacy and quality of life. Background:…Somatosensory Mismatch Negativity is abnormal in Cervical Dystonia.
Objective: Here, we hypothesised that somatosensory abnormality in patients with dystonia relates to a more general deficit in pre-attentive error/deviant detection . Background: Dystonia is a common…RAB12 variants and their role in dystonia
Objective: To evaluate the role of mutations in RAB12 in different forms of dystonia. Background: By next generation sequencing, we recently identified an extremely rare…
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