Pulmonary Dysfunction in Friedreich’s Ataxia (FRDA)
Objective: We sought to characterize pulmonary function in FRDA and identify disease variables that may contribute to dysfunction. Background: FRDA is a neurodegenerative disease that causes…Substantia Nigra Degeneration In Spinocerebellar Ataxia 2 And 7 Using Neuromelanin-Sensitive Imaging
Objective: To assess substantia nigra pars compacta (SN) degeneration in SCA type 2 and 7 using neuromelanin-sensitive MRI Background: Spinocerebellar ataxias (SCA) are often associated…Clinico-radiological and genetic profile of patients with Ataxia with Oculomotor apraxia type-2 (AOA2)- A case series from India
Objective: To delineate clinical, radiological and genetic profile of patients with ataxia with oculomotor apraxia type-2 (AOA2) in Indian cohort. Background: AOA2 is a relatively…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,…Chorea Acanthocytosis Misdiagnosed as Functional Movement Disorder
Objective: To highlight the importance of genetic testing when the clinical symptoms of Chorea Acanthocytosis (ChAc) are misdiagnosed as functional movement disorder (FMD). Background: ChAc…Motor and Quality of Life Outcomes of Deep Brain Stimulation for Pediatric Dystonia – CHILD-DBS Registry
Objective: To evaluate the motor and quality of life (QoL) outcomes of deep brain stimulation for pediatric dystonia with the following parameters: BFMDRS, total number…Intrafamilial phenotypic variability of DYT-ANO3: Analyzing 14 affected members with a novel variant
Objective: Delineation of phenotypic diversity of DYT-ANO3 in a large tribal family of Indian origin. Background: DYT-ANO3 (DYT24) is a rare cause of autosomal dominant…The Yips in Golf: Is it a Task-Specific Dystonia ?
Objective: The aim of this study is to classify the phenomenology of the Yips in Golf and investigate what underlies this anomalous movement by answering…Neural Signatures of Laryngeal Dystonia during Asymptomatic Tasks of Sequential and Learned Finger-Tapping
Objective: To investigate brain activity in laryngeal dystonia (LD) patients compared to healthy controls during asymptomatic motor tasks of sequential and learned finger-tapping, as well…The use of modelling in Huntington’s disease
Objective: Summarising the development of mathematical models to further HD research through characterisation and disease progression. Background: There have been major advances in HD research…
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