Clinical and genetic characteristics of PLA2G6-parkinsonism in southwest of China and a review of heterogeneity of phenotype and genotype between Asian and Caucasian patients
Objective: Objective: To summarize clinical characteristics, imaging features and genetic data of PLA2G6 mutant patients in southwest of China, and to investigate the heterogeneity between Asian and…Perceptions of Diseases in Patients with Cervical Dystonia
Objective: To explore how perception of disease can impact stigma, mood, quality of life, and severity of symptoms in patients with cervical dystonia (CD). Background:…Ataxic-spastic gait: a form of presentation of DYT5/DYT-GCH1
Objective: Describe a case of DYT5/DYT-GCH1 presenting with an ataxic-spastic gait Background: DYT5/DYT-GCH1 is an autosomal dominant disease typically characterized by lower limb dystonia starting…Expanding Phenotype of LRRK2 G2019S Mutation: Case Description of Two Sisters Showing Peculiar Phenomenological Traits
Objective: The aim of this case report is to describe and expand LRRK2 phenomenology, including clinical presentation and disease course. Background: LRRK2 is the most…A study on the phenomenological analysis of Spinocerebellar Ataxia type 12 revealing a dystonic imprint
Objective: To assess the presence and distribution of dystonia in spinocerebellar ataxia type 12 (SCA12). Background: SCA12, commonly seen in the Agarwal community in India,…Phenotypic Variability in Combined Parkinsonism-Dystonia and Isolated Idiopathic Dystonia
Objective: To analyze the demographic and clinical differences between patients with combined parkinsonism-dystonia and those with isolated idiopathic dystonia. Background: The current dystonia classification system…Spectrum of Movement Disorders in Vitamin B12 Deficiency: A Case Series from India
Objective: We present a case series of movement disorders associated with vitamin B12 deficiency Background: Vitamin B12 deficiency can cause multiple neuropsychiatric disorders like peripheral…Cortical Pencil Lining in Brain MRI of a Patient with Chorea and Hepatic Cirrhosis
Objective: To propose a novel etiology for cortical pencil lining Background: Cortical pencil lining refers to the presence of linear hypointense tracings within the cortical…Longitudinal Assessment of Dystonic Symptoms in Rapid-Onset Dystonia-Parkinsonism: genetic dystonia symptoms vary over time
Objective: To clarify the temporal progression of symptoms in the rare genetic dystonia, ATP1A3 disease Background: The ATP1A3 gene encodes the neuronally ubiquitous α3 subunit…Mutation of the ATP5F1A gene associated with dystonia, spasticity, myoclonus, cognitive impairment and epilepsy – a rare case report of a patient
Objective: We present a patient with generalized dystonia with spasticity, craniofacial dysmorphism and myoclonus on the left upper limb due to mutation of the ATP5F1A…
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