Huntington disease-like: an atypical presentation of Niemann-Pick type C.
Objective: Report a case of adult-onset Niemann-Pick disease type C (NPC) with Huntington disease-like (HDL) phenotype. Background: NPC is a neurodegenerative autosomal recessive lysosomal storage…Evidence of Central Autonomic Network dysfunction in orthostatic hypotension of Parkinson’s disease
Objective: To examine the contribution of the central autonomic network (CAN) to physiologic evidence of autonomic failure in Parkinson’s disease (PD). Background: Autonomic dysfunction, particularly…Olfactory discrimination differentiate drug-induced parkinsonism and Parkinson’s disease
Objective: In this study, we evaluated detailed differential features of olfactory function in PD and DIP. Background: DIP is common but it is challenging to…The role of genetic testing in Dystonia diagnosis
Objective: To determine the contribution of different approaches to the clinical use of genetic tests in dystonia diagnosis. Background: Dystonias are a heterogeneous group of…Differences in patients with Impulse Control Disorder based on antiparkinsonian drug treatment in a Mexican Institute.
Objective: To describe the differences in multiple factors based on Parkinson's treatment in patients with impulse control disorder Background: In intermediate-advanced phases of PE, psychiatric…A novel THAP1 variant presenting with early-onset generalized dystonia in a family
Objective: To report a novel mutation in the THAP1 gene presenting with childhood-onset generalized dystonia in a family. Background: DYT6 or DYT-THAP1 is a genetic…Assessing Gait Disturbances in Parkinson’s Disease Using Multi-Spectral Diffusion Weighted Imaging
Objective: We aimed to use diffusion MRI quantitative maps as an objective, non-invasive measure to assess for gait disturbances in Parkinson’s Disease (PD). Background: PD…Association Between Anticholinergic Burden, MCI, and Cholinergic Denervation
Objective: To characterize the relationship between anticholinergic burden (ACB), mild cognitive impairment (MCI), and its underlying cholinergic pathology. Background: MCI is a common phenomenon in…Sacral Mass Lesion Mimicking Atypical Foot Dystonia In Parkinsonian Pa tient
Objective: Describe an unusual presentation of leg posturing and dystonic features in a patient with diagnosis of atypical parkinsonism, which was ultimately found to be…Impact of non-pharmacological strategies on progression in Parkinson’s Disease and Cognitive Impairment.
Objective: to determine the Impact of non-pharmacological strategies on progression in Parkinson's Disease and Cognitive Impairment. Background: PD is the second most common neurodegenerative disorder,…
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