iPSC-Based Modeling of SCA12 for Targeted Therapeutic Screening
Objective: 1. To identify a cohort of genetically confirmed SCA12 patients of Indian origin, derive iPSCs, progenitor cells and neurons from peripheral blood samples2. To…A Head-Turning Case of SCA10 with Dystonia
Objective: Present a SCA10 patient presenting with rare phenomenology of dystonia in addition to ataxia. Background: The spinocerebellar ataxias (SCAs) are a heterogenous group of…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…paraneoplastic cerebellar ataxia: a rare cause of late-onset ataxia
Objective: investigate the clinical features, imaging findings and immunological characteristics of Paraneoplastic cerebellar ataxia (PCA) in our cohort. Background: Paraneoplastic cerebellar ataxia (PCA) is a…Syndrome of Progressive Ataxia with Palatal Tremors (PAPT) with Hypertrophied Bilateral Inferior Olives in a young Indian Female
Objective: To report and extend the clinical and radiological features of Progressive Ataxia and Palatal Tremors (PAPT) syndrome. Background: Hypertrophic degeneration of olivary nucleus is…Bilateral Fronto-Temporal Lobar Atrophy: An Atypical Magnetic Resonance Imaging Finding in Neuroacanthocytosis
Objective: In Neuroacanthicytosis,to the best of our knowledge, bilateral fronto-temopral lobar atrophy associated with neuroacanthocytosis has not been reported. We report herein a case of…Deep Brain Stimulation in Dystonia: Investigating Differential Response by Dystonia Distribution
Objective: To quantify the response of isolated non-acquired dystonia to deep brain stimulation (DBS) of the globus pallidus interna (GPi) across multiple body regions. Background:…Rare Missense Variants in KCNJ10 Are Associated with Paroxysmal Kinesigenic Dyskinesia
Objective: The aim is to identify the missing genetic causes of Paroxysmal Kinesigenic Dyskinesia (PKD) Background: Although the group of genes associated with PKD is…Cervical dystonia after cerebellar stroke and medullary hemorrhage
Objective: to present a patient who developed delayed secondary cervical dystonia after anterior medullary hemorrhage and ipsilateral cerebellar stroke. Background: Postroke dystonia is mostly associated…Writing dysfluency associates with basal ganglia network dysfunction in writer’s cramp dystonia
Objective: The primary objective of this study was to identify brain regions associated with behavioral measures of dystonia in a specific subtype called writer’s cramp…
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